In June 2007, I was appointed Assis-tant Professor at The Ohio State

University and Principal Investigatorof my own lab in the Center for GeneTherapy at the Research Institute atNationwide Children’s Hospital inColumbus, Ohio. I am combining mytwo areas of training, RNAi andmuscle gene therapy, to developRNAi-based treatments forfacioscapulohumeral musculardystrophy (FSHD) and other dominantmuscular dystrophies. To initiallyshow proof-of-concept, we generatedadeno-associated virus (AAV) vectorscarrying microRNAs that reduce over-expressedFRG1, a can-didate genefor FSHD. Weare testing theefficacy ofthese vectorsin mice thatproduce toxicFRG1 levelsin muscleand showFSHD-likesymptoms.Since FSHDmay becaused by mis-expression of other,yet-to-be defined genes, we believe thatthis strategy will set the stage forfuture RNAi-based treatment strategiesas more genes are identified. Likewise,we are actively searching for othergenes that may be involved in FSHDbiology and may be candidates forRNAi treatment.

I feel extraordinarily fortunate to besurrounded by outstanding people andresources. The members of my lab areall intelligent, hard-working and moti-

vated people. My center director, JerryMendell, M.D., works tirelessly to makegene therapy treatment for all types ofmuscular dystrophy, including FSHD andduchenne muscular dystrophy (DMD), areality. He has initiated numerous clinicaltrials, and provided the leadership tomake the Center for Gene Therapy aworld-class institution by, among otherthings, recruiting outstanding scientistsand clinicians and building a clinical-grade AAV vector production facility foruse in human trials.

For those readers considering a pro-fessional career in biomedical research,my path to becoming a scientist began in

public school inSaginaw, Michi-gan. My non-sci-entist parents –mom was ahomemaker wholater became akindergartenteacher and dadhad numerousjobs, includingdriving a breadtruck and sellingappliances –enrolled me inan advanced

math/science program at Saginaw’s Cen-ter for the Arts and Sciences (CAS). Iattended the CAS in the mornings andthen took a bus to my regular juniorhigh school, to take classes in English,PE, history, etc. The math/science cur-riculum was split evenly between thetwo subjects, but only one grade wasgiven. I always aced the science part andessentially ignored my math work. Sincethe grade was averaged, I ended up get-ting a lot of C’s. Here I was first inspiredto pursue a career in science. At the risk

of making a political statement, I am atleast one example of how the Americanpublic school system, if properly fundedand managed, can help mold lives in apositive way. Somewhat contradictory tothis is that I was generally bored withschool (except science classes) and can-not claim to have excelled.

I graduated at the age of sixteen, tooka year off, spent a year at a community

FSH WatchSPRING 2008

At Last: Bringing Gene Therapyfor FSHD into the Laboratory

A publication of the Facioscapulohumeral Muscular Dystrophy SocietyConnecting the community of patients, families, clinicians and investigators

Dr. Harper and researchers in his lab, Jorge Torres,Jennifer Allen, Lindsay Wallace, Sara Garwick, andDr. Harper, Center for Gene Therapy, The Research

Institute at Nationwide Children’s Hospital andDepartment of Pediatrics, The Ohio State University

P arents and young people tell usthat facioscapulohumeral muscu-

lar dystrophy (FSHD) is lonely and iso-lating, that it affects teenagers andyoung adults in a way different fromother age groups. Parents and theirchildren have the usual issues of ado-lescence, now compounded by a dis-ease for which there is no treatmentand no cure. At a time when this agegroup is interested in dating, in athlet-ics, in making lifelong friends, and inplanning their academic future, theFSHD patient population also experi-ences or faces the beginning of irre-versible muscle loss and the reality ofa lifelong disease. Because the dis-ease is genetic, other children in thefamily may have it, as may one of theparents, perhaps resulting in greaterstress in family life.

The Dorr Foundation has made agenerous award to the FSH Society todevelop a program of education andsupport for teenagers and youngadults with FSHD. Please considerhow you might participate and askyoung people you know to contact theSociety and get involved.

Next StepsWe invite individuals – parents and

young people – to form an Advisorycontinued on page 2

continued on page 3

Dorr FoundationAwards Grant for

Teenagers and YoungAdults Program

By Scott Q. Harper, Ph.D., Assistant Professor, Center for Gene TherapyThe Research Institute at Nationwide Children’s Hospital and Department of Pediatrics, The Ohio State University, Columbus, Ohio

F F F

2 FSH WATCH NEWSLETTER n SPRING 2008

Board of DirectorsDaniel P. Perez, President & CEOWilliam R. Lewis, Sr., M.D., ChairmanHoward L. Chabner, J.D., Vice-ChairmanCarol A. Perez, M.Ed.., SecretaryWilliam Michael, C.P.A., TreasurerE. Ann Biggs-WilliamsRobert H. Brown Jr., M.D./D.Phil. *James A. Chin, Sr.JoAnn P. ForanceDavid J. Glass, M.D.William E. Hall Jr., J.D. *William S. Herzberg, M.D.Louis M. Kunkel, Ph.D.C. Larry Laurello, P.E.Richard A. Lefebvre, M.B.A.William R. Lewis III, M.D.Theodore L. Munsat, M.D. *Paul Schultz, M.D. *Robert F. Smith, Esq.Z. John Stekly, Sc.D.Christopher Stenmon, C.P.A.

Scientific Advisory BoardDavid E. Housman, Ph.D., ChairmanMichael R. Altherr, Ph.D.Robert H. Brown Jr., M.D./D.Phil. Rune Frants, Ph.D.Louis M. Kunkel, Ph.D.William R. Lewis, M.D.William R. Lewis III, M.D.Katherine D. Mathews, M.D.Theodore L. Munsat, M.D. *George W. A. M. Padberg, M.D.Paul Schultz, M.D. *Kathryn Wagner, M.D., Ph.D.

* Board Member Emeritus

Executive & Development OfficeNancy Van Zant, Executive DirectorFSH Society, Inc.c/o BBRI R35364 Grove StreetWatertown, MA 02472 USA(617) 658-7878(617) 658-7879 Faxnancy.vanzant@fshsociety.org

Patient Resources OfficeCarol A. Perez, M.Ed.FSH Society, Inc.3 Westwood Road Lexington, MA 02420 USA(781) 860-0501 (781) 860-0599 Fax carol.perez@fshsociety.org

Research Programs OfficeDaniel Paul PerezFSH Society, Inc.11 Elmbrook Circle Bedford, MA 01730 USA(781) 275-7781 (781) 275-7789 Fax daniel.perez@fshsociety.org

www.fshsociety.org

Group. Please let the Society knowyour interest in joining this group. TheAdvisory Group will work to help theFSH Society better serve young people.We will also use the InternationalPatient and Researcher Meeting, July27, Coralville/Iowa City, to launch thisprogram. Two workshops are includedthat address our young audience: “Tak-ing Care of Ourselves for Teenagersand Young Adults with FSHD: A sessionfor patients to talk with each other andwith physicians and researchers aboutFSHD;” and “Teenagers and YoungAdults Networking and Making Plans:A session to share experiences andconcerns.”

Recently, Mickey Slevin, ProgramAssistant at the FSH Society, publishedentries for the Society on MySpace™,www.myspace.com/fshsociety, and onFacebook™, www.facebook.com,where one searches for FSH Society orfacioscapulohumeral in the search box,to provide a social networking opportu-nity for young people and to give theSociety a means for communicatingwith these members. (See related arti-cle.) This is also a way to reach youngpatients who have not found the Societythrough other means. Both of thesesites are moderated for content andmembers.

How Will You Participate?• Introduce the Society to the young

people in your home and family; and• Join or share your feelings with the

Advisory Group.

The FSH Watch is published by the FSH Society and distributed by mail to its members and sup-porters. All material is copyrighted and may not be reproduced without written permission. To beplaced on the mailing list or to submit an article, please write to: Nancy Van Zant, Executive Director,FSH Society, Inc., c/o BBRI R353, 64 Grove Street. Watertown, MA 02472 USA. Articles may be editedfor space and clarity. Every effort has been made to ensure accuracy in the newsletter. If you wish tocorrect an error, please write to the above address. Look for us on the Internet at: www.fshsociety.org

Editors: Nancy Van Zant and Daniel Paul Perez. Editorial Assistance: Carol Perez, Jenny Lazzaro,Howard L. Chabner & Charles C. Perez. Graphic design and editorial assistance: Susan L. Stewart, ColoradoLasertype.com

Dorr Foundation Awards Grant, continued from front page

What Are the Advisory Group’sObjectives for the Coming Months?

• Make a plan to identify needs ofteenagers and young adults andrespond to these needs;

• Create a membership category forthese individuals;

• Communicate, communicate, com-municate: use Watch newsletter andmake maximum use of technology andcommunication vehicles embraced bythese individuals; and

• Evaluate progress and participationin early 2009.

The FutureOver the years the Society has been

focused primarily on the needs and con-cerns of adults and families, and onresearch to find treatments and a cure.We are not wavering from these com-mitments. However, we recognize thatone of the ways to serve more people,to grow the Society and to meet a veryimportant need is to reach out to moreteenagers and young adults. At everystep we are aware that we must listen tothe concerns of young people aboutcoping with the various stages of thedisease, and help them to manage theirpersonal, social and academic lives.

A number of inspiring teenagers arealready involved with the Society, con-necting with each other and expressingtheir concerns, dreams and fears. Theyoften mention that until the Society intro-duced them to a peer with FSHD, theyhad never met another person with thisdisease. They write for our newsletter,they go to the FSH Society BulletinBoard to chat (moderated), and theyhave extraordinary insight as they sharetheir feelings and experiences.

We look forward to this program. On behalf of all Society members, wethank the Dorr Foundation and itstrustees including Mrs. VirginiaMaxwell, grandmother of a young person with FSHD, for this award. FF

F F F

It is the editorial policy to report on devel-opments regarding FacioScapuloHumeralMuscular Dystrophy (FSHD), but not toendorse any of the drugs or treatmentsdiscussed. We urge you to consult withyour own physician about the proceduresmentioned.

3FSH WATCH NEWSLETTER n SPRING 2008

college, then joined the U.S. Navy. TheNavy was another profound experi-ence for me; sounds like a recruitingcommercial, but there I learned theimportance of commitment and hardwork. After I went from active duty tothe Reserves, I returned to college andgot my B.S. in biology from SaginawValley State University (SVSU). In1996, I began my Ph.D. studies in cellu-lar and molecular biology at the Uni-versity of Michigan in Ann Arbor. Myfirst year there was, to say the least,humbling. Classes were taught differ-ently than in college, there was awhole language of molecular biologythat I had not learned yet, and, comingfrom small, obscure SVSU, I was intim-idated by my fellow graduate studentswho came from places like Princetonand Yale.

While at Michigan, I had the greatopportunity to join the lab of JeffreyChamberlain, Ph.D., who was workingon developing gene therapy for DMD.The lab was doing exciting work, andpeople there were enthusiastic andenjoyed what they did. This was areflection of Dr. Chamberlain, whosescientific brilliance is equally matchedby his quality of character. Dr. Cham-berlain continues to be developing agene therapy method to treat DMD.Children afflicted with this dystrophyare either missing a piece of their Xchromosome containing a gene calleddystrophin or have a copy of the genethat does not function normally.Before I joined the lab, Dr. Chamber-lain used a mouse model for DMD toshow that adding back dystrophin inmuscles lacking it essentially “cured”the muscular dystrophy in these mice.This study suggested that dystrophinreplacement might be a way to treathuman DMD, but delivering it to peo-ple was a much tougher task. Thestrategy Dr. Chamberlain began devel-oping in the 1990’s was to deliver thedystrophin gene using viruses that nat-urally infect muscle. In this approach,genes required for viral replication inhumans are removed, so the virus isstill capable of infecting cells but can-not reproduce itself. These deletedviral genes are then replaced by insert-ing human dystrophin. The end resultis the virus is “tricked” into delivering

Bringing Gene Therapy into the Laboratory, continued from front page

toxic over-abundance of normal genes.RNAi is a natural process in which smallinhibitory RNAs (called microRNAs) helpprevent expression of other, protein-codingRNAs (called messenger RNAs; mRNAs).This is achieved, in part, through sequence

similarity betweenthe inhibitory RNAand mRNA. Thissimilarity allowsinhibitory RNAs toguide cellular genesilencing machin-ery to the propermRNAs and pre-vent them frombeing made intoproteins. For genetherapy, we candesign artificialmicroRNAs thatare similar to any

gene we are interested in controlling. Dr. Davidson specializes in brain gene

therapy, and shortly after joining her lab, Ibegan working on developing an RNAi-based strategy to reduce expression of thetoxic gene causing the brain disorder,Huntington’s disease (HD). To do this,I again used AAV vectors to deliverinhibitory RNAs to mouse brain, sincethese vectors also efficiently infectmammalian neurons. We were the first toshow that RNAi could be used to suppressthe mutant HD gene in mice and improveHD-related symptoms. Dr. Davidson ismoving this strategy forward with the goalof eventually using it to treat human HD,and we continue to publish in this area.

I hope it is evident that the success of mycareer so far is owed in large part to severalexceptional people. I am happy to find alsothat the FSH Society has been extremelysupportive in my very short career as anindependent scientist. Daniel Perez has beeninstrumental in helping to guide the focus ofmy lab and putting me in touch with manyof the excellent established investigators inthe field who have graciously shared theiradvice and resources, including RossellaTupler, M.D., Ph.D., Alexandra Belayew,Ph.D., Rabi Tawil, M.D., and MelanieEhrlich, Ph.D. I thank you for the opportuni-ty to introduce myself and my lab to theFSHD community. FF

Dr. Harper has support from the FSH Society Landsman Charitable Trust Fellowship.

the dystrophin gene to muscle in theirplace.

Because dystrophin is a huge gene,the only virus capable of carrying itwas adenovirus. However, this viruswas not long-lasting and it soonbecame clearthat other meth-ods of deliverywere necessary.One such alter-native wasadeno-associat-ed virus (AAV),which wasknown to effi-ciently infectmuscle and pro-duce long-termgene expres-sion. Important-ly, AAV doesnot cause any known disease inhumans, so it is, in many ways, theideal vector for muscle gene therapy.The major drawback to AAV is itsextremely small size; the dystrophingene was about three times larger thanthe carrying capacity of AAV. To usethis vector, we had to dramaticallyreduce the size of dystrophin. This iswhere my project began. Based on nat-urally occurring dystrophin deletionsfound in mildly-affected patients, wemade rational deletions in dystrophinto reduce its size. These so-calledmicro-dystrophins were capable of fit-ting into AAV, and, when delivered todiseased mouse muscle, improvedmany of the symptoms associated withDMD. This work is still moving forwardin Dr. Chamberlain’s lab, as well as oth-ers, and clinical trials are underway.

After receiving my Ph.D. in 2002, Ithen moved to the University of Iowato do my post-doctoral research in thelaboratory of Beverly Davidson, Ph.D.Again, I found an outstanding mentorand scientist to help guide this stage ofmy career. Here, I began working ondeveloping a new technology, calledRNA interference (RNAi), for gene ther-apy. RNAi can be used to reduce,rather than replace, expression of amutated gene. This is important fordominant disorders in which only onebad copy of a gene is sufficient tocause disease, or diseases caused by

I began working on developing a newtechnology, called RNA interference(RNAi), for gene therapy. RNAi can beused to reduce, rather than replace,expression of a mutated gene. This isimportant for dominant disorders in whichonly one bad copy of a gene is sufficient tocause disease, or diseases caused bytoxic over-abundance of normal genes.

“

“

4 FSH WATCH NEWSLETTER n SPRING 2008

As many readers will know, a clini-cal trial sponsored by Wyeth Phar-

maceuticals was recently completedand published (Ann Neurol. 2008 Mar11. [Epub ahead of print] PMID:18335515) of an inhibitor of myostatinin adult muscular dystrophy. One thirdof the participants had FSHD. Myo-statin is a negative regulator of musclegrowth and inhibition of myostatinstimulates muscle growth and regener-ation. The trial showed that MYO-029was safe at the doses evaluated andhad a suggestion of biological efficacy.Although everyone involved was disap-pointed that a larger effect was notobserved and that MYO-029 will not befurther developed by Wyeth, there aremany reasons to be pleased with theexperience.

First, the trial was extremely suc-cessful in evaluating various outcomemeasures that will be invaluable indesigning the next clinical trial inFSHD. Second, the trial brought togeth-er several different sites across theUnited States and in the United King-dom for similar training of investiga-tors, study coordinators and clinicalevaluators. Third, the visibility of thedisease and the FSH Society wasincreased to the larger community.Finally, as you will read below, peoplewith FSHD were empowered by theexperience of making a valuable contri-bution to research in therapeutics.

I have had the opportunity to per-sonally thank the subjects who partici-pated at Johns Hopkins and extend mythanks now to those at other sites. Oneof the endearing qualities of FSHDparticipants was their completeenthusiasm for the project. Typically,enrollment for a cohort, or grouping ofsubjects at a particular dose, wouldopen and close on the same day for

FSHD. Patients at Hopkins arrived at7:00 a.m. in the morning to make surethey would be enrolled. They made alltheir appointments and they volun-teered for muscle biopsies (a surgicalprocedure). More important thanendearing yourselves forever in myheart, this devotion has left all involvedwith a desire to work with the FSHDpopulation again in clinical trials.Therefore, through the FSH Society andthrough the natural enthusiasm ofthose with FSHD, future clinical trialsof myostatin inhibitors or other muscleenhancing drugs are currently beinghighly considered in FSHD.

. . . And Patients Share Their Experiences

Richard Holmes Brewster, Massachusetts

In 2005, myneurologist,Anthony Amato,M.D., Brighamand Women’sHospital, Boston,asked if I mightparticipate in adrug study hewas planning forpatients with

three types of muscular dystrophy –facioscapulohumeral, limb-girdle andBecker. It was to be a safety study of amyostatin inhibitor. There was someevidence of animals and humans with agenetic mutation that naturally sup-pressed myostatin in their bodies, caus-ing them to develop stronger muscles.Dr. Amato said the drug would attemptto replicate this natural process.

The theory seemed plausible. Therewas – and is – no existing drug to

Perspective on MYO-029 Clinical Trialcounter the chronic muscle-wasting ofFSHD. The gene therapy I had readabout sounded both risky and far frombeing developed into a realistic form oftreatment. I knew there would be a lotof trips between Boston and my homeon the Cape, 85 miles away, and a lot oftesting. But the prospect excited me, asit was a way I could do somethingabout my disease, even if it did notdirectly benefit me.

I did not really expect any positiveresults from the treatment, but, ofcourse, I hoped for some. I knew that Imight be one of the participants whoreceived a placebo, and I also knewthat I was in the first group being test-ed, and would therefore be getting thelowest dosage if I received the drug.

During my visits, there were otherstudy participants getting their intra-venous dose as I got mine. We askedeach other if we had noticed anyeffects. Once or twice, someoneremarked on a recent feeling ofstrength and wondered if the drugcaused it.

The first cohort of the study ended,and we were told the results would notbe forthcoming until after two subse-quent higher dosage groups had beencompleted and the data analyzed. Itwould be a year or two before theresults would be released and a widerstudy would be needed before the drughit the market, if it proved safe and suc-cessful. We were in information limbo.

I finally learned in March by an e-mail from FSH Society executive direc-tor Nancy Van Zant that WyethPharmaceuticals had decided not topursue development of MYO-029.Apparently the drug did not work at thetested doses and caused some undesir-able side effects at the highest dosetested. But the e-mail did say Wyethintended to pursue similar paths oftreatment, including other myostatininhibitors. I was disappointed by thenews, more by the failure of MYO-029than by Wyeth’s decision to drop it.

continued on page 5

The Clinical Viewpoint from the Principal InvestigatorBy Kathryn Wagner, M.D., Ph.D., Associate Professor of Neurology and Neuroscience; co-director, Johns Hopkins MDAUSA Clinic; and co-director, Johns Hopkins/University of Pennsylvania Senator Paul Wellstone MuscularDystrophy Cooperative Research Center; The Johns Hopkins Hospital, Baltimore, Maryland

5FSH WATCH NEWSLETTER n SPRING 2008

I was glad to see they said they wouldcontinue related research.

I look forward to hearing moreabout Wyeth or another drug companypursuing research into myostatin inhi-bition or other promising areas to com-bat FSHD. If there is a way to helppress for this – say, by writing drugcompanies – I would be glad to takepart. I am thankful to the FSH Societyfor bringing the results of the MYO-029study to my attention and keeping theissue alive.

David R. Anderson Montross, Virginia

I am muchmore fortu-nate thanmany withthis diseasebut each daybrings manyreminders ofthe slow butsteady pro-gression ofmuscle lossassociated

with FSHD. Things that I used to takefor granted like climbing stairs, gettingout of a chair or carrying a bag of gro-ceries now require a “plan” or specialefforts. The thought of a drug thatcould slow the muscle wasting or evenresult in some slight recovery ofstrength and mobility is always on mymind, and I am sure on the minds ofeveryone with FSHD.

In 2005, I read with great interest anarticle in Quest magazine about a myo-statin safety drug trial. Wyeth Pharma-ceuticals was looking for participantsin various locations includingChildren’s National Medical Center(CNMC), Washington, D.C., a two-hourdrive from my home in Virginia. Afterexchanging information by mail andphone, I was disappointed to find I wasnot a candidate for further screeningbecause I was taking a daily supple-ment of CoQ10.

In February of 2006, I made a fol-

Perspective on MYO-029 Clinical Trial, continued from page 4

low-up call to CNMC and to my sur-prise was told they were looking forparticipants for the fourth phase of thetrial (the highest dosage). After review-ing all the documentation about thetrial, I was eager to give it a tryalthough not confident I would beaccepted. As excited as I would be toparticipate, I had some concerns. Howwould I handle the physical logistics ofcommuting to Washington, gettingaround for all the testing required overfour or five days, and being away frommy own comfortable environment? DidI really want to make a commitment forthirteen infusions if I was accepted?Did I want my wife, JoAn, to endurethe same long days and commute toWashington? Could I pass all the vari-ous screening tests? Did I want to gothrough the MRI process? I have neverheard of anyone dying from an MRI,but personally I would rather haveteeth extracted than to squeeze intoone of those tight tunnels. Of least con-cern to me was safety of the drugwhich was the objective of the trial. Isuspect many of us would “try aboutanything” to gain strength. Some mighteven consider using that stuff baseballplayers are accused of using. (Just kid-ding.)

With some anxiety, my wife and Imade the initial visit to CNMC in Feb-ruary, 2006. After several weeks andthirteen different appointments, I wasaccepted into the trial. The comprehen-sive screening was the best physicaland neurological assessment I had everhad. It included heart, lungs, musclestrength, eyesight, hearing, bone densi-ty, etc. I even “survived” the MRIalthough I did use a blindfold.

Robert Leschner, M.D., was the neu-rologist who conducted the initial neu-rological exam and would bemonitoring me through the thirteeninfusions over the next twenty-six-week period. He explained that therewere eight people in this high dosagephase of the trial and two of the eightwould be receiving a placebo. Beforestarting the initial infusion, Dr. Leschn-

er gave me his cell phone and homephone numbers and told me to call himanytime day or night if I had any con-cerns or problems. A doctor’s homephone number! It finally penetrated mythick head that this really is a “safety”study and there may be some riskinvolved. I experienced a brief momentof apprehension; it quickly passedbecause I knew that I would take a lotof risk for a little improvement and thatI was lucky to have been accepted intothe trial.

Beginning in mid-March 2006, I hadan infusion every other week and hadcompleted a total of three of the thir-teen that were scheduled. I was feelinggood and in fact thought I might evenbe a little stronger although I realizedthat this feeling may have been a place-bo effect. I was extremely disappointedwhen just before the fourth infusion Iwas told everything was being put onhold because of some complications. Ashort time later I received a letter indi-cating there was a case of “suspectedaseptic meningitis” and three partici-pants experienced allergic reactions.This prompted Wyeth to discontinuethe Cohort 4 high dosage test but theydid continue the lower dosage Cohorts2 and 3.

At this date in 2008, I still do notknow if I had been receiving the place-bo or the real article during the trial. Itwas very disappointing to read recentlythat Wyeth would not be continuingfurther activities on MYO-029, especial-ly when the results indicated safetywas not an issue and that there weresome positive efficacy results. I reallyhope someone else picks this up forfurther testing and development.

Would I be interested in participat-ing in another trial? Absolutely! Everyperson I met in the process was firstrate, kind, caring and professional. Itwas a great experience and I still feelfortunate to have been part of the trial.To me and many others a trial like thisone provides reason for optimism!

continued on page 6

6 FSH WATCH NEWSLETTER n SPRING 2008

Perspective on MYO-029 Clinical Trial, continued from page 5

Donald Custis Lokerson New Carrollton, Maryland

As a stu-dent in jun-ior high andhigh schools,I frequentlyfell whileplaying inthe requiredsports. Whenattempting topass gymtest for the

30-foot-high-rope climb, I barely madeit to the top, when loss of strengthcaused me to slide slowly downward,burning my hands. Back then, therewas no such thing as being excusedfrom gym activities because of muscleweakness.

Some years later in November 1979,I enjoyed a 50-mile hike down the C&OCanal tow path in 18 hours, and I feltexhilarated though very tired.

Then in early 1984, when I was 44and visited an orthopedist, he referredme to a study being done at NIH onneuromuscular diseases. I knew I hadsome weakness in my arms and legs,but I had never heard of FSHD, thediagnosis that was delivered after muchtesting and a muscle biopsy from myarm.

In December 1990, we chanced tomeet a choral group member, KarenJohnsen, who showed the shoulderwinging and foot drop. She was juststarting an FSH Society support groupfor FSHD in our greater Washington,D.C. area. In this group we sharedexperiences and met with others withsimilar symptoms and learned as muchas we could from several experts whocame to our group. In October 2001, asa part of the clinical registry of FSHDpatients, I participated in a clinical trialat the University of Rochester whereRabi Tawil, M.D., took muscle samplesfrom my left calf muscle.

In May 2004, Kathryn Wagner, M.D.,Ph.D., was asked by the FSH Society totell our support group about the clini-cal trial being established at The JohnsHopkins Hospital, among other sites,

by Wyeth Pharmaceuticals to study theeffects of anti-myostatin on FSHDpatients. I applied to participate in thistrial and was very grateful to be accept-ed, even though I had to take off timefrom work to participate. Thoroughphysical exams at the beginning andend confirmed my general good heathand very small changes during the test-ing period. My wife took detailed noteson my performance of muscle strengthchanges. The overall attitude of every-one who took care of me was upbeatand relaxed, keeping me at ease inwhat might have been quite a stressfulexperience.

In March 2008, we attended a“reunion” with Dr. Wagner and a fewother trial participants at The JohnsHopkins Hospital, where I found outthat I had been given a very low doseof anti-myostatin which was enough toimprove muscle mass slightly but notenough to provide more strength. I wasvery disappointed that Wyeth was dis-continuing the trial, as I was reallylooking forward to receiving whateverform of anti-myostatin which mighthave been approved by the FDA andexperiencing some significant improve-ment. Dr. Wagner said that additionalpharmaceutical companies are planningto continue studies for a successfulmyostatin inhibitor, and I ferventlyhope that the companies will keep theprocess Wyeth started going so that I,my sisters and brother, our friends inthe FSH Society and all others withFSHD will share in its benefits.

Maximilian N. Teleki Washington, D.C.

In August 2004, after the birth of ourfirst child, our son Tibor who along

with his sis-ters isFSHD-free, Ibecameawarethrough theFSH Societyof the myo-statin trialsponsored

by Wyeth and conducted at varioushospitals around the country. Fortu-nately for me, one of the participatinghospitals was Children’s National Med-ical Center, Washington, D.C., which is15 minutes from our home. This con-venience was not afforded to most par-ticipants, whom I observed driving longdistances or flying into Washingtontwice monthly or more.

After applying and being reviewedby a small panel of clinical specialistsand physicians, I was accepted into thefirst cohort “safety trial,” and I beganmy participation in September 2004.This seven-month process consisted ofbaseline, top to bottom tests, andbimonthly injections. These baselinetests consisted of: bone density scans,MRIs, EKGs, CT scans, eye exams,hearing exams, exercises, and a seriesof ongoing questionnaires. In additionto these requirements, I had to submitto regular physical examinations, alongwith blood and urine analysis. Thisprocess became an approximate com-mitment of 15 hours monthly, and italso absorbed a considerable amountof time, given the need to rest after thegrueling days of injections and exami-nations. I suspect that the total timecommitment was closer to 30 hoursmonthly once I factored in the time Ineeded to rest the day of a treatmentand/or the day after.

All said, I was truly gratified to par-ticipate in this process and for the firsttime in years felt like I was taking aproactive approach that was somewhatempowering and had potential to helpothers and myself. Two very good andunrelated experiences gave me tremen-dous satisfaction. During my time atCNMC, I encountered children who hada variety of challenging illnesses, somefatal and some manageable. This notonly reminded me of how fortunate Iwas personally, but it made me feelproductive. I was able in some smallmeasure to contribute to the lives ofthese children. While at the same facili-ty and involved in the Wyeth trial, Iexperienced the same hope that thiseffort would collectively bear fruit for

continued on page 7

7FSH WATCH NEWSLETTER n SPRING 2008

all FSH’ers down the road.I do not want to give anyone the

impression that it was a cakewalk. Ihad reservations and faced some healthchallenges during this period. I wasexhausted, and had nausea or dizzinessfrom time to time, and as a new father Ifelt somewhat removed from these firstfew months of my son’s life. In the longrun, it was a worthwhile experiencethat I hope will lead to Wyeth eventual-ly resuming this study and beginningthe second part of this effort. I hopethe FSH Society will continue to workwith Wyeth on resuming this collabora-tive relationship and to do what it doesso well – laying groundwork for theseclinical trials to come into being.

Don BurkeAlexandria, Virginia

In 2005, Iparticipated in theWyeth Pharmaceu-ticals MYO-029medical trial thatincluded study par-ticipants withfacioscapulohumer-al-, limb-girdle-, and

Becker muscular dystrophy. Decidingto participate in this trial, however,proved more difficult than I expectedbecause of the fear and doubt that con-sumed my thoughts each step of theway. Would it be safe? Would I be onplacebo? Am I a bad person for caringwhether I was on a placebo or not?What do I tell my coworkers? What if itcauses my FSHD to progress more rap-idly? What if I learn something that Iwould rather not know?

In the end, the opportunity to partic-ipate in a trial aimed specifically atFSHD superseded all doubts. To mysurprise and appreciation, I foundmyself immersed in a medical systemthat overflowed with passion for itswork and for FSHD. I was surroundedby doctors, surgeons, nurses and aideswho were attentive and engaged. Ifound myself looking forward to eachvisit and the exchange of informationand knowledge.

Within seven days of the first infu-sion, I began to feel different. Just 13days from my first infusion, my journalreads in part “I seem to be walkingfaster, getting out of bed easier. In gen-eral the feelings from May 11, 2005,remain intact with the addition of theincreased appetite.” When I visited myfamily in Minnesota, my aunt comment-ed that I looked “fuller” which hadbecome a common refrain by thosewho have known me for a long time. Bythe end of June, I had stopped wearingmy home-made foot brace and found adexterity and balance unlike at anyother time in many years. Was this realor placebo? I had no way of knowing.

My time in the trial came to its natu-ral end and then came the long silence.Years went by without any news. I andmy fellow participants were left towonder why we bothered to contributeto the trial. We had all but given uphope that the results would ever bepublished when in early 2008, Kathryn

Wagner, the principal investigatorcalled us together and gave us the news that there were no significantindications of efficacy across thecohorts. There was more to the storythough as there were some indications,though not statistically significant, thatFSHD study participants benefited andthat I specifically had received the realdrug. My test results showed measura-ble improvement thus confirming mypersonal observations and notes. I cannot imagine a more frustrating out-come than to have benefited myselfand have the drug shelved. Now almostthree years later, my body grows weak-er; I trip and fall; and I have lost thedexterity I gained during the trial.Despite all this, I continue to feel privi-leged to have participated and will for-ever cherish the people who made mebelieve in the medical system. I ammore confident than ever that we willfind treatments and eventually a curefor FSHD. FF

Perspective on MYO-029 Clinical Trial, continued from page 6

Dear Friends,

Iam delighted to report that our mem-bers in New York, New Jersey, Con-

necticut, and points beyond, had awonderful evening on April 22, at theNew York Botanical Garden. Fellowmembers Robert and Abigail Kirschhosted the reception and dinner for125 people in attendance.

My wife, Duncan, and I hoped thatwe might attend, but commitmentskept us in California. I was pleased tolearn that guests enjoyed the program,presented by Kathryn Wagner, M.D.,Ph.D., The Johns Hopkins Hospital;Howard Worman, M.D., Columbia Uni-versity; and Michio Hirano, M.D.,Columbia University Medical Center.Fellow director, James A. Chin, Sr.,served as master of ceremonies. JudySeslowe, member, invited others tojoin with her to plan the next event forthe Society, and member, Sanford L.Batkin, offered thanks before dinner.

We would like to hold more events

such as this one. Ifyou or someone youknow is interested inhosting something inyour community,please let us know.

Similarly, thegood work of theSociety in the inter-est of FSHD patientsand their families ismade possible by your membershipand gifts. Please consider the gift youcan make at this time.

On behalf of all the patients andtheir families, I thank Robert andAbigail Kirsch for their generoussupport of the Society through thislovely evening at the New YorkBotanical Garden.

Sincerely,

William R. Lewis, Sr., M.D.

William R. Lewis, Sr., M.D.

A Letter from the Chairman,Board of Directors, FSH Society

8 FSH WATCH NEWSLETTER n SPRING 2008

T he FSH Society provided testimo-ny again this year before the U.S.

Senate Appropriations Subcommitteeon Labor, Health and Human Services,Education and Related Agencies onfunding for fiscal year 2009 for theNational Institutes of Health (NIH),making recommendations on the fund-ing of research grants for facioscapulo-humeral muscular dystrophy (FSHD).The Society presented its testimony toSubcommittee Chairman Senator TomHarkin (D-IA) and Ranking MemberSenator Arlen Specter (R-PA) on April27, 2008. The Society presented testi-mony to the U.S. House AppropriationsSubcommittee Chair, RepresentativeDavid Obey (D-WI), on March 20, 2008

FSH Society President & CEO,Daniel Paul Perez, asked for immediateand necessary help for those of us cop-ing with and dying from FSHD and allmuscular dystrophies. Specifically weasked the congressional appropria-tions subcommittee to:

1. Resume the five year doubling ofthe NIH budget. Over the pastyear the research funding situa-tion has gone from bad to worseand opportunities have been lostto fund excellent research.

2. Appropriate $80 million to MDresearch at the NIH in FY2009and steadily increase thisamount to at least $125 millionannually over the next five years.

3. Make NIH funding comprehen-sive for basic research in each ofthe nine types of MD as well ascreating an equitable distributionfor each MD across the SenatorPaul D. Wellstone Muscular Dys-trophy Cooperative ResearchCenter network, program proj-ects, basic research projects,clinical research, training pro-grams and translational researchprograms.

We asked that the mandate to theNIH be to have centers and a compre-hensive research portfolio in each ofthe muscular dystrophies, rather thancenters and a comprehensive researchportfolio in all of the muscular dystro-phies. This seemingly insignificant oneword change transforms death into life

FSHD Advocacy Efforts Continue with Testimonies to the U.S. House and U.S. Senate

National Institutes of Health (NIH) Appropriations History

Source: NIH/OD Budget Office & NIH OCPL (Dollars in millions)

Fiscal NIH Overall MD Research FSHD Research FSHD %Year Dollars Dollars Dollars of MD

2000 $17,821 $12.6 $0.4 3%

2001 $20,458 $21.0 $0.5 2%

2002 $23,296 $27.6 $1.3 5%

2003 $27,067 $39.1 $1.5 4%

2004 $27,887 $38.7 $2.2 6%

2005 $28,494 $39.5 $2.0 5%

2006 $28,587 $39.9 $1.7 4%

2007 $28,899 $47.2 $4.1 8.7%

2008 $29,230 Est $47.2 Est - -

To see more details on how each NIH Institute and other federal agenciesare doing with respect to FSHD, please see complete testimonies at www.fshsociety.org. FSH Society advocacy and educational efforts on FSHDare yielding excellent dividends! Your continued support and contributions tothe Society are vital in helping create large scale research and clinical efforts.If you are interested in becoming more involved in grassroots efforts, pleasecontact us! FF

The FSH Society compiles data fromthe NIH to measure the level of specificfunding for FSHD in particular and formuscular dystrophy in general. Fundinghistory was obtained from the NIH underthe Freedom of Information Act. Steadyprogress has been made in increasingmuscular dystrophy funding since theSociety was formed in 1989.

Between fiscal year 2006 and 2007,NIH overall funding for muscular dystro-phy research grew from $39,913,000 to$47,179,000, an 18 percent increase. Fromthe inception of the MD CARE Act in2001, funding has doubled for musculardystrophy.

Between fiscal year 2006 and 2007,NIH funding for FSHD increased from$1,732,655 to $4,108,555, a 137.1%increase. In fiscal 2007, FSHD was 8.7%of the total muscular dystrophy funding($4,109,000 out of $47,179,000).

In 1988, 20 years ago and a year afterwe began to organize the FSH Society,$4.3 million was the total NIH commit-ment for all muscular dystrophies. FF

for all patients and families with MD. The Society applauds Story Landis,

M.D., Director, National Institute ofNeurological Disorders and Stroke(NINDS), and current Chair of the Muscular Dystrophy Coordinating Committee (MDCC); Stephen I. Katz,M.D., Ph.D., Director, National Instituteof Arthritis and Musculoskeletal Disor-ders (NIAMS) and past-Chair of theMDCC; John Porter, Ph.D., ProgramDirector Muscular Dystrophy, NINDS,and Executive Secretary of the MDCC;and Glen Nuckolls, Ph.D., ProgramDirector Muscular Dystrophy, NIAMS,for the extraordinary comprehensionand insight with which the NIH ActionPlan for Muscular Dystrophy wasresearched, compiled and approved.The NIH is making significant invest-ments to understand musculardystrophy research needs and hasmade excellent choices in recruitingprogram staff with the ability to under-stand the extremely complex nature ofeach of the muscular dystrophies.

9FSH WATCH NEWSLETTER n SPRING 2008

Facebook and MySpace:The Society Steps Into Social Networking

The Society and/or members can postpictures, videos, or other media thatthey findrelevant orthat othermembersmight findinteresting.If there arebreak-throughs inresearch orif FSHD isin the news,it will befound right

By Mickey Slevin

T he way people are connecting ischanging, and that includes those

affected by FSHD. The FSH Society, inkeeping with web 2.0 technologies,has published important social net-working tools on MySpace™,www.myspace.com/fshsociety, andFacebook™, www.facebook.com;search for “FSH Society” or “facio-scapulohumeral” in the search box.

By becoming “friends” of the Soci-ety online, members can connectdirectly with others involved with FSHDand more specifically, the FSH Soci-ety. The page will host updates aboutresearch and Society events.

Dear Friends,

W e invite you to join with patients,family members, researchers

and clinicians concerned withfacioscapulohumeral muscular dystro-

phy (FSHD) for the2008 FSH SocietyInternational Patientand ResearcherNetwork Meeting,July 26-28, 2008.

Saturday, July 26,is an unstructuredday for patients andfamilies with timefor touring early inthe day, and a

Reception and Greeting, 4:00 – 7:00p.m. The conference will begin at 7:30a.m. on Sunday with Registration andBreakfast. We have planned a pro-gram of lectures and discussions tobring current clinical and researchadvances in FSHD to our community.We conclude with a continental break-fast and farewell on Monday. KatherineMathews, M.D., will also offer a clinicon Monday for patients with infantileFSHD. (See page 12 for more informa-tion.)

The program and the registrationform are in this issue. Please mail yourregistration in the enclosed envelopeby June 27. Hotel reservations must bemade by July 4, to secure the specialgroup rate. Childcare may also bearranged for a limited number of chil-dren.

The Society holds this meetingbecause you – patients and families –have requested it. Many of you tell usthat it is a life-changing event. Wehope that you will join us in Iowa inJuly.

The 2008 FSHD patient andresearcher meeting and the Society’sprograms of education and researchare made possible only through gener-ous donations and membership in theFSH Society. Please consider renew-ing your 2008 membership at this timeor make a special contribution tosupport this meeting.

Sincerely,

Nancy Van Zant Executive Director

Nancy Van Zant

Patients and Researchers to Meet inCoralville/Iowa City, July 27, 2008

on the page. If members have theirown insights, there is the wall feature

where registered“friends” can postthoughts andquestions. Formore specific top-ics, members,with only a clickof the mouse, cancreate a forum oftheir own withinthe webpage toopen discussionon a subject oftheir choice. Bothsites are moni-

tored daily to avoid spam or virtualvandalism.

Signing up for either website takesonly a few minutes. Anyone, no matterage, location, or occupation, can regis-ter as long as one has an e-mailaddress. The websites are easy to useand becoming a registered “friend” ofthe Society takes only a few clicks ofthe mouse.

Photos from the gathering of mem-bers at the New York Botanical Gardenon April 22, 2008, are up on the Face-book™ website. If you missed the din-ner in New York, please check theevents section for information regard-ing the 2008 FSH Society InternationalPatient and Researcher Network Meet-ing, which takes place July 26-28 inIowa City/Coralville, Iowa. Peopleattending the conference can arrangeto meet others by connecting inadvance on MySpace™ and Face-book™. Since people are flying in fromaround the world, forming a networkbefore you reach the conference canhelp to make arrival easier and theconference that much more worth-while. The websites will also allowthose who meet through the gatheringsor other Society happenings, to stayconnected long after they leave.

Check it out! FF

10 FSH WATCH NEWSLETTER n SPRING 2008

GoodSearch: You Search, We Givean online shopping mall also able to ben-efit charities by its use.

What the FSH Society is asking youto consider is to use GoodSearch.comas your primary choice of searchengines.

To set it up on your computerplease follow these simple instructions:

• Go to: www.goodsearch.com

• Click on: WHO DO YOUGOODSEARCH FOR?

• Enter: FSH Society• Click on: Add Google search

to your Internet Explorer,Firefox, or Mac Toolbar

It is simple to install and eveneasier to spread the word. Tell yourfriends, family and co-workers, so

By Arlene Cohen

How would you like to raise moneyfor the FSH Society without

leaving your house, or asking friendsone more time to buy something thatyou know they do not need? Better yet,the longer you keep your computerchair warm the more money we raise.How so, you say? By searching theinternet.

GoodSearch is an internet searchengine launched in 2005, by Ken Ram-berg who realized that search engineadvertisements generated $8 billionannually. GoodSearch donates 50 per-cent of its revenue to the charities desig-nated by its users; the FSH Society isalready set up to benefit. In 2007, Good-Shop was added to the search engine as

they too can start using GoodSearch tosupport FSHD! What a great way tosupport the FSH Society! More funding,more research, closer to a cure...

Read about GoodShop, and earnmoney for the FSH Society when youshop online at Best Buy, Target, Pets-mart, Staples, Gap and others! FF

Justin Cohen powering up GoodSearch

E arlier this year, members of theboard of directors shared with the

FSH Society that their wills or othertrust documents include a bequest tothe Society. By way of this good news,the Society launched the FSHDFuture Fund, and declared Barbaraand Jim Chin, Bill and Ginny Michael,Judy and Bill Herzberg, M.D., JoAnnForance, Bob Smith, Howard Chabner

Gathering of FSH Society members at the New York Botanical Garden, April 22, 2008

and Michele DeSha, charter members.We can all help the Society and its

future work – become a charter mem-ber of the FSHD Future Fund byincluding a bequest to the Society inyour will or other estate planning docu-ments.

If you have already included the FSHSociety in your will, we hope you willlet us know. If you will allow the Soci-

ety to recognize your dedication in ourAnnual Donor Report, your examplemight inspire others. If you have ques-tions about your planning and how itcan support the work of the Society inthe future, or if you would like a copy ofthe booklet, Questions and Answersabout Wills and Bequests, contact theSociety office: (617) 658-7878, or e-mailnancy.vanzant@fshsociety.org. FF

FSHD Future Fund Launched

Robert and Abigail Kirsch,

hosts for the reception and

dinner in the Garden

Terrace Room

Left to right:Stuart Lai, Barbara andJames A. Chin, Sr.

11FSH WATCH NEWSLETTER n SPRING 2008

United Airlines Foundation Honors Employees for Community Service and Makes a Gift to the Society

Glenn Tilton,chairman,

president andCEO of UnitedAirlines, FSH

Society member,Janice Gilligan,

and Pete McDonald,

executive vicepresident and

chief operatingofficer at United

T he United Airlines Foundation, the charitable armof United Airlines, awarded grants to 46 organiza-

tions, including the FSH Society, for which employeesperformed volunteer service. Glenn Tilton, chairman,president and CEO, and Pete McDonald, executive vicepresident and chief operating officer, presented theawards to recipients in November 2007.

United individual volunteer grants recognize employ-ees for their individual commitments to communityservice and are awarded to individual organizations inthe names of their employee volunteers. The Society’saward was made in the name of FSH Society memberand volunteer Janice Gilligan, change management ana-lyst for United. The grant of $1,000 resulted through arandom drawing from the many grant applications sub-mitted.

The award ceremony, which took place at the UnitedTraining Center in Elk Grove Village, Illinois, honoredemployees for their dedication to community service. FF

Is Your E-mailAddress Current at the Society?

W e communicate with many of youby e-mail and many of you

encourage the Society to use moreelectronic media. New databases andsoftware will make this easier in thecoming months. If we do not have yourcurrent e-mail address,and if you want to besure of receiving up-to-the-minute informa-tion from theSociety as newsbreaks, pleasee-mail youraddress to us – for the first time orwhen you have changes.

E-mail jennifer.lazzaro@fshsociety.org.Thank you! FF

Combined FederalCampaign (CFC)2008 Campaign

T he FSH Society has beenapproved by the Office of

Personnel Management for the 2008CFC campaign. The CFC is theworld’s largest and most successfulannual workplace charity campaign,with more than 300 CFC campaignsthroughout the country and interna-tionally to help to raise millions ofdollars each year. Pledges made byFederal civilian, postal and militarydonors during the campaign season(September 1st to December 15th)support eligible non-profit organiza-tions that provide health and humanservice benefits throughout the world.The FSH Society’s CFC identifica-tion number is 10239. FF

Betsy Lewis Conron, daughter of Duncanand William R. Lewis, Sr., M.D., chairmanof the Society’s board, asked her friends tomake contributions to the Society insteadof gifts to her at her recent birthday party.From left to right: Katrina Losee, Melissa

Eason, Betsy, her sister Linda LewisStapleton, and Janis Taormina.

Easy Way to Contributeto the FSH Society

Member Deborah Schwartz writes…

I had a thought regarding fundraising.Every month when we get credit card

statements, there are points accumulat-ing. I noticed that one can actually writechecks using these points: 2500 points= $25.00. This seems an easy way tomake a gift to the FSH Society.

So, I decided to try. I was success-ful in sending the FSH Society a checkfor $25.00 using Chase credit cardpoints. The Society received the checkin five days.

I hope others will try this, too! FF

10th Annual End of TaxSeason Fundraiser:

for the Record Books

C hristopher and Ellen Stenmon,together with friends, family,

co-workers and his firm, O’Connor andDrew, P.C., once again held an end-of-tax-season party and raised importantfunds for the FSH Society. The 2008event is the tenth and raised over$15,000 – a record for the event!

The Society is grateful to Chris andEllen and all the other generous peoplewho contributed to this great event inQuincy, Massachusetts, on April 19.Chris, a member of the Society’s boardof directors, has been involved with theSociety since he was sixteen years old. FF

F F F

12 FSH WATCH NEWSLETTER n SPRING 2008

2008 FSH Society International Patient Researcher Network Day

Saturday, July 26, 2008 – Monday, July 28, 2008Coralville Marriott Hotel & Conference Center

300 East 9th Street, Coralville, Iowa 52241 Phone: (319) 688-4000http://www.marriott.com/hotels/travel/cidic-coralville-marriott-hotel-and-conference-center/

3:00 – 4:15 p.m. Workshop IB: Taking Care of Ourselves for Teenagers and Young Adults with FSHD – A session for patients to talk with each other and with physicians and researchers about FSHD

1:30 – 2:45 p.m. and 3:00 – 4:15 p.m. Workshop II: Caregivers: Spouses, Significant Others and Family MembersA session to talk with other caregivers

1:30 – 2:45 p.m. and 3:00 – 4:15 p.m. Workshop III: More Q&A with Researchers and Clinicians – A session to meet and collaborate with physicians and researchers

1:30 – 2:45 p.m. Workshop IVA: Teenagers and Young Adults: Networking and Making Plans – A session to share experiences and to consider how to take a greater role in the Society

3:00 – 4:15 p.m. Workshop IVB: Self-Advocacy and Patient AdvocacyA session to learn about patient rights and legal issues

V. Conclusion and Adjournment: 4:15 – 5:00 p.m.4:20 p.m. Concluding Remarks5:00 p.m. Adjourn

Monday, July 28, 20088:00 – 10:00 a.m. Continental Breakfast at the Coralville Marriott8:00 a.m. – 5:00 p.m. Infantile FSHD Clinic at the University of

Iowa Hospitals and ClinicKatherine Mathews, M.D., and Clinic Staff

Clinic OverviewThe early onset (infantile) FSHD clinic to be held at the University of

Iowa, Department of Neurology, in Iowa City will offer the opportunity tomeet with specialized staff with experience in treating patients withFSHD. Personnel at the clinic will include a pediatric neuromuscularphysician, neuromuscular nurse/genetic counselor, speech and hearingspecialists, and physical therapist. Through collection of information fromfamilies prior to the clinic, the clinic experience will be tailored to insurethat issues of greatest interest are addressed.

The clinic is open to persons with FSHD who are 20 years of age andyounger who experienced weakness (excluding those with isolated faceweakness) by age 10 years. Patients (or parents) will be asked to completea short medical history which will be mailed prior to the date of the clinic.In addition, selected medical records including DNA results, recent physi-cal therapy, speech pathology, audiology, and ophthalmology notes shouldbe sent to the University of Iowa prior to the date of the clinic, if possible.

Anyone interested in more information about the clinic should call Car-rie Stephan, R.N., (319) 356-2673 or e-mail carrie-stephan@uiowa.edu.

The FSH Society wishes to thank the 2008 Network Conference Speak-ers, the 2008 Network Conference Committee and all attendees for theircontributions to the success of this meeting. Sponsors to date include:

The Association Française Contre les Myopathies (AFM)Athena Diagnostics, Inc. • Acceleron Pharma

The Facioscapulohumeral Muscular Dystrophy Society (FSHSociety) is an independent, non-profit 501(c)(3) and tax-exempt U.S.corporation organized to address issues and needs specifically related toFacioscapulohumeral Muscular Dystrophy (FSHD). Contributions areacknowledged for tax purposes. All inquiries should be addressed to theFSH Society, Inc., Nancy Van Zant, BBRI R353, 64 Grove Street, Massa-chusetts 02472 Phone: (617) 658-7878, fax: (617) 658-7879, e-mail:2008Meeting@fshsociety.org, website: http://www.fshsociety.org

Saturday, July 26, 20084:00 – 7:00 p.m. Greeting and Reception. Registration.

Sunday, July 27, 20087:30 – 8:25 a.m. Registration and Breakfast Buffet8:25 a.m. Welcome

Daniel Paul Perez, President & CEO, FSH SocietyNancy Van Zant, Executive Director, FSH Society

I. Health Information You Need to Know! 8:25 a.m. – 9:55 p.m.8:25 – 8:30 a.m. Welcome

William R. Lewis, Sr., M.D., Chairman, Board of Directors, FSH Society, Inc.

The William T. “Billy” Michael Memorial Lecture for Research on Infantile FSHD

8:30 – 8:55 a.m. Clinical Medicine and Research Advances in Infantile and Adult FSHD

Katherine Mathews, M.D., Division Head, Child NeurologyUniversity of Iowa, Department of Neurology, Iowa City, Iowa USA

8:55 – 9:20 a.m. Advances in Physical Therapy and FSHDWendy M. King, P.T., Assistant Professor, NeurologyThe Ohio State University and the Research Institute at Nationwide Children’s Hospital, Columbus, Ohio USA

9:20 – 9:45 a.m. Respiratory Therapy and Issues in FSHDNoah Lechtzin, M.D., MHS, Assistant Professor, Medicine and Neurology; Pulmonary Director, Johns Hopkins ALS Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

9:45 – 9:55 a.m. Break

II. Helping to Solve FSHD! 9:55 a.m. – 12:30 p.m.9:55 – 10:00 a.m. Reconvene

William R. Lewis, Sr., M.D., Chairman, Board of Directors, FSH Society, Inc.10:00 – 10:25 a.m. New Insights in FSHD Research

Louis M. Kunkel, Ph.D., Professor of Pediatrics and of Genetics at Children’s Hospital Boston and Harvard Medical School, and Howard Hughes Medical Institute Investigator, Children’s Hospital, Boston, Massachusetts USA

10:25 – 10:50 a.m. Therapies, Compounds and Strategies to Treat FSHD

Kathryn Wagner, M.D., Ph.D., Associate Professor of Neurology and Neuro-science; co-director, Johns Hopkins MDAUSA Clinic and co-director, Johns Hopkins/University of Pennsylvania Senator Paul Wellstone Muscular Dystrophy Cooperative Research Center The Johns Hopkins Hospital, Baltimore, Maryland USA

10:50 – 11:15 a.m. FSHD Research Program and Funding Advances at the Federal Agency Level

John D. Porter, Ph.D., Executive Secretary, Muscular Dystrophy Coordinating Committee; and Program Director, National Institutes of Health National Institute of Neurological Disorders and Stroke (NINDS) Neuromuscular Disease Neurogenetics Cluster; and the NINDS Technology Development Program, Bethesda, Maryland USA

11:15 – 11:25 a.m. Break11:25 – 12:30 p.m. Panel/Audience Discussion: Questions and Answers

III. Lunch 12:30 – 1:30 p.m.

IV. Breakout Discussion Groups 1:30 p.m. – 4:15 p.m.1:30 – 2:45 p.m. First session: Four Concurrent Workshops3:00 – 4:15 p.m. Second session: Four Concurrent Workshops1:30 – 2:45 p.m. Workshop IA: Getting to Know You/Taking Care of

Ourselves – A session to talk with others about FSHD