Antonio Molina-Pachon, Ph.D., chair of the effort to create the Rare Disease Research Hub
Antonio Molina-Pachon, Ph.D., chair of the effort to create the Rare Disease Research Hub

A coalition of entrepreneurs, researchers, and biopharma industry advocates in suburban Westchester County, NY, is working to create a “hub” that would link them with partners in and outside the county, with the goal of advancing research and development of new treatments for rare diseases.

The Westchester Biotech Project—a not-for-profit created to foster scientific research and collaboration by researchers, engineers, and data scientists—is working to create the Rare Disease Research Hub. It plans to establish a bioincubator that would house tenant startups, as well as a $6 million venture fund that would invest in up to 12 startups by awarding seed funding of $500,000 per company.

The Hub also envisions helping the startups connect with established venture capital firms and other investors when the companies are ready for traditional financing. Startups are expected to be ready to pursue Series A financing in two years, though some companies may need longer, said Antonio Molina-Pachon, Ph.D., chair of the effort to create the Hub.

“We will create an ecosystem that will significantly lower the risk of these companies during the early stages. This environment will help academic institutions to mount more projects, and will increase the chances of success for them,” Dr. Molina-Pachon told GEN. Dr. Molina-Pachon is a serial entrepreneur who is founder and CEO of GenCo Pharma, a developer of treatments against rare diseases causing serious skin conditions.

The Hub has drawn interest from academic institutions looking to spin out biopharma and health technology startups, entrepreneurs and other partners eager to take equity stakes in the startups, and “very significant” real estate developers interested in building or renovating space for labs, Dr. Molina-Pachon says. He declined to name the potential stakeholders.

Dr. Molina-Pachon says he developed a passion for rare disease drug development after meeting a 3-year-old boy suffering from an ultra-rare bone marrow extension while he was running a biotech startup in Madrid. The boy died three years later. “We tried to move so fast that we would involve him in clinical trials. But unfortunately, he died before we were able to do that.”

The experience jolted him enough, he said, to launch a company focused on rare disease drugs, Advanced Medical Projects. Dr. Molina-Pachon says the company is being closed while its work is being moved from Spain and Switzerland to Westchester.

“We have a very innovative technology based on 3D printing of drugs that we are going to use in rare diseases. We are also working with a panel of really brilliant oncologists based in Europe and in the U.S., to develop drugs against glioblastoma,” Dr. Molina-Pachon says.

Scott Mellis, M.D., Ph.D., VP, early clinical development and experimental sciences, rare diseases at Regeneron
Scott Mellis, M.D., Ph.D., VP, early clinical development and experimental sciences, rare diseases at Regeneron

Opportunity for ‘Good Innovation’

Dr. Molina-Pachon and the Westchester Biotech Project reason that the Hub can tap into a growing community of scientists, companies, academic institutions, and healthcare providers in and outside the county with experience in researching and treating rare diseases.

“As the biotech leader in Westchester, we're always trying to generate ideas, and the sharing of thoughts and innovation in Westchester and in New York. We see ourselves as really a stalwart of that community, so any innovation is good innovation in our mind,” Alexandra Bowie, a spokeswoman for Regeneron Pharmaceuticals, told GEN. “We think there is an opportunity for us to help colleagues in the field, and also for then to help us and make us aware of things that we might not have thought about.”

Headquartered in Tarrytown, NY, Regeneron is Westchester’s largest biopharma employer; its workforce stood at approximately 6,200 full-time employees as of December 31, 2017. Regeneron was established in 1988 and won its first FDA drug approval 20 years later for Arcalyst® (rilonacept), an interleukin-1 blocker indicated for Cryopyrin-Associated Periodic Syndromes (CAPS), including Familial Cold Auto-inflammatory Syndrome (FCAS) and Muckle-Wells Syndrome (MWS) in adults and children 12 and older.

Today the company’s pipeline includes several rare disease candidates, led by Evinacumab (REGN 1500), an antibody to angiopoietin-like protein 3 (ANGPTL3) that is in Phase III trials in homozygous familial hypercholesterolemia (HoFH), and Phase II studies in refractory hypercholesterolemia (both heterozygous familial hypercholesterolemia [HeFH] and non-familial hypercholesterolemia [FH]).

Regeneron is also pursuing an HoFH indication for the Sanofi-co-marketed Praluent® (alirocumab), an antibody to Proprotein Convertase Subtilisin Kexin Type 9 (PCSK9) already approved as adjunct to diet and maximally tolerated statin therapy for adults with HeFH or clinical atherosclerotic cardiovascular disease, who require additional lowering of low-density lipoprotein (LDL)-cholesterol.

Also in Regeneron’s rare disease pipeline is REGN2477, an Activin A antibody in Phase II studies for Fibrodysplasia Ossificans Progressiva (FOP); and REGN3918, an antibody to complement 5 in Phase I studies for Paroxysmal nocturnal hemoglobinuria (PNH).

“Our scientists will study rare disease in virtually every therapeutic focus area, in large part because we start out trying to learn from the rare disease,” says Scott Mellis, M.D., Ph.D., vp, early clinical development and experimental sciences, rare diseases at Regeneron. “Very often, an opportunity for therapeutic intervention drops out of that research. And when it does, and it looks like we have the ability to make an important contribution to therapeutics in that area, then we will develop.”

Michael Welling, the Westchester Biotech Project’s founder and co-chair,
Michael Welling, the Westchester Biotech Project’s founder and co-chair,

Addressing Scarcity and Abundance

As key to that development as the science, Dr. Mellis adds, is addressing both the scarcity of patients across the more than 7,000 identified rare diseases, and the abundance of commitment to developing treatments across the communities of patients, researchers, companies, and other stakeholders that differ from disease to disease. “There's an abundance of passion and drive for cures. People really want to help. There are regulatory incentives, and regulatory flexibility, which is really important. And then you have the patients and the academicians who really want to help bring a cure to help people.”

Dr. Mellis says Regeneron has successfully reached out to rare-disease patients by engaging with them by working with advocacy organizations; conducting natural history studies; and developing study designs that yield a lot of information from relatively small numbers of patients.

“In the case of Arcalyst, we essentially ran two randomized studies in the same patient population serially. A parallel group placebo study, followed by a mono-sequence crossover, followed by a randomized withdrawal. We were able to derive a lot of information from studying 45 people over the course of a relatively short period of time,” Dr. Mellis says. “One needs to engage, one needs to learn, and then one needs to be creative.”

Dr. Mellis and Justin Grindley, Ph.D., senior staff scientist at Regeneron, discussed the biopharma giant’s history, successes, and challenges in developing rare disease treatments during a day-long symposium held Wednesday at Iona College in New Rochelle, NY.

During the symposium, approximately 50 attendees heard presentations from speakers who discussed their experiences, personal and professional, with rare diseases, including:

  • Varun Doddapaneni, M.D., attending physician at Elizabeth Seton Pediatric Center in Yonkers, NY, presented a case study of how the Center treated “A.J.,” a 10-month-old girl diagnosed with COG7-CDG, a congenital disorder of glycosylation. Joining Dr. Doddapeneni was another Seton attending physician, Alvin Moyer, M.D.
  • David Bettoun, Ph.D., vp, preclinical development at Chondrial Therapeutics, whose lead candidate CTI-1601 is in development to treat Friedreich’s Ataxia (FA).
  • Jules Mitchel, Ph.D., president of Target Health, a full-service CRO and clinical trials software company.
  • Bethany Hills, Esq., a partner with the law firm Mintz Levin and chair of its FDA practice, discussed “Regulatory Challenges and Opportunities” for developing rare-disease treatments.
  • Michael Welling, the Westchester Biotech Project’s founder and co-chair, shared the story of how his son Matthew successfully underwent two stem cell transplants after being diagnosed as an infant with osteopetrosis. He spent his first birthday at Memorial Sloan Kettering Cancer Center, where he was hospitalized 143 days.

“We saw that as a responsibility and an obligation to tell Matthew’s story,“ says Welling, who directs the Life Sciences group of Meridian Risk Management in Pelham, NY. “We’re going to use this to educate, to make sure we’re doing whatever we can in our limited capacity to make sure no other parent is told, ‘There’s nothing we can do. I’m sorry, go home and wait.’ That truly is the basis for why we’re all here today.”

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