Starting Small Companies Focused on Rare DiseasesSean Ekins1,2 and Jill Wood2,3

1 Collaborations Pharmaceuticals inc., 5616 Hilltop Needmore Road, Fuquay Varina, NC 27526, 2Phoenix Nest, P.O. BOX 150057, Brooklyn NY 11215, USA., 3Jonah's Just Begun, P.O. Box 150057, Brooklyn, NY 11215, USA.

AbstractIn the space of a few years between us we have been formed two raredisease focused companies. In one case this resulted from meetingseveral parents of children with rare diseases. One company, PhoenixNest (http://www.phoenixnestbiotech.com/) was co-Founded with arare disease parent and is working on treatments for Sanfilipposyndrome a devastating neurodegenerative lysosomal storage disorderof childhood. In the space of 2 years we have built up collaborationswith leading academics and industry and submitted multiple grantproposals. We were able to secure our first NIH NINDS STTR recentlyto fund development of an enzyme replacement therapy with ouracademic collaborator, and this sets the stage for our growth. All ofour resources are spent on supporting research and development withminimal overhead as we leverage collaborative researchers and toolsto ensure we reach our goal. The second company, CollaborationsPharmaceuticals Inc. (http://www.collaborationspharma.com/) wasfounded in an attempt to scale this strategy to address some of theother 7000 or so rare diseases as well as infectious diseases, many ofwhich are neglected or rare. Lessons learned in this process are thatanyone can start a company and it can be done cheaply. In order tostart a rare disease company, parents, patients or advocates that havestarted their own foundation and know all the science and scientistsare in the ideal position. As a scientist knowing that such parents existwas highly influential. Ideally having at least one scientist with whomyou can submit grants and ultimately license what comes out of thework is important as well as having someone involved that can writegrants and papers for the company. We would encourage otherscientists to meet rare disease parents, patients or advocates andwork with them to further the science on their diseases.

References

Wood J, Sames L, Moore A, Ekins S, The multifaceted roles of rare disease parent / patient advocates in drug discovery, Drug Disc Today, 18: 1043–1051, 2013. http://www.drugdiscoverytoday.com/download/1215

Litterman NK, Rhee M, Swinney DC and Ekins S, Collaboration for rare disease drug discovery research, F1000research, 3:261, 2014. http://f1000research.com/articles/3-261/v1

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Rare Disease Parent Odyssey

Timeline: Starting Phoenix Nest

Nov 2011 – JW and SE met at Partnering for Cures – SE suggested afounding company and go after SBIR and STTR grants to fund research.

Early 2012 – Phoenix Nest (PN) founded.

April 2012 – PN submitted first grant on MPS IIIC with collaborator inCanada.

Dec 2012 – PN resubmitted first grant on MPS IIIC and JJB submittedproposals for Rare Genomics Institute and Assay Depot Rare DiseaseScience Challenge: Be HEARD Competition.

Feb 2013 – Funded Sanfilippo D knock out mouse study (a prize fromRare Disease Science Challenge: Be HEARD).

Nov 2013 – Published 1st paper with other rare disease advocates.

Dec 2013 –Submitted STTR with Patti Dickson (LABioMed) on MPS IIIDenzyme replacement therapy.

Aug 2014 – Submitted a fourth and fifth STTR.

Oct 2014 – STTR with Dr. Patti Dickson on MPS IIID funded and started.

April 2015 – Invited presentation at Neurotech Investing andPartnering Conference

July 2015 A second STTR MPS IIIB scored with Dr. Patti Dickson

Aug 2015 – Delivered STTR Milestones – Submitted phase II proposal

Challenges of Starting a Biotech Company

• We are funding company by obtaining STTR and SBIR grants.• Registering company on multiple websites in order to submit grants

is time consuming.• Company needs a qualified scientist (PI) who can coordinate grant

writing with academic and submit grant package for company.• PI must have credibility at managing science.• Reviewers of rare disease grants do not understand that many key

rare disease scientists are outside the US.• When our STTR grant was funded we had further steps to take to

comply with NIH rules. This required considerable effort.• Since obtaining a grant we have had extensive legal contract work to

license technology and set up a laboratory close to collaborator.• Hiring a postdoc was tough – hired associate instead.• VCs are just not interested in these ultra rare diseases.

• We need to find the patients – their voice is important.

Collaborations Pharmaceuticals

Founded 2015, set up SAB, board, website, pitch slides, business planetc.

Facilitate research, development, funding of innovative therapeutics forrare diseases and infectious diseases. No disease is too small.

Identify scientists funded by Foundations with technology to license.

April 2015 Submitted STTR to fund TB drug discovery lead.April 2015 Submitted SBIR to develop software.June 2015 Submitted SBIR to develop mobile app.

Collaborating with a research Institute on a repurposing project.

Ebola repurposing, Identified 2 leads tested and active in vitro.

Acknowledgments

Dr. Alexey Pshezhetsky, Dr. Patti Dickson, Dr. Alex Clark, Dr. Joel Freundlich, Michele Rhee, Dr. Xiaoyi Zhang, Dr. Tsui-Fen Chou, Dr. Brian Bigger., Dr. Matt Ellinwood, Derek Moen, Dr. Steven Le, Dr. Shih-hsin Kan, Allison Moore, Lori Sames and many others

FundingNIH NINDS 1R41NS089061-01

The Incentive:Rare Pediatric Disease Priority Review Voucher

Jonah (7), diagnosed age 2.

Has Sanfilippo Syndrome (MPS IIIC) - MPS IIICcaused by genetic deficiency of heparan sulfateacetyl CoA: a-glucosaminide N-acetyltransferase,(HGSNAT). A single gene defect.

MPS III is a devastating neurodegenerativelysosomal storage disorder of childhood.

All subtypes of MPS III have similar clinical phenotypes with onset ininfancy or early childhood: progressive and severe neurologicaldeterioration, hearing loss, and visceral manifestations. Most patientsbecome demented and die before adulthood but some survive to thefourth decade with progressive dementia and retinitis pigmentosa.

Jonah’s parents founded Jonah’s Just Begun 501(c)3 Funds raised toinvest in the science of MPS IIIC.

From a modest start - now part of the global HANDS consortium.

Meet Jonah

Pathway to Developing a Treatment

How Do we Help Other Rare Diseases