Rare disease therapies: Three strategies to bridge the gap between research and industry

Rare disease research: DNA helix pictured here
Genetic mutations underpin many rare diseases.

Right now, there are about 7,000 rare diseases affecting 10 percent of Americans. Only five percent of these diseases have any FDA-approved treatment options.

David Williams, MD: President, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center; Senior VP, Chief Scientific Officer and Chief of Hematology/Oncology, Boston Children’s
Wayne Lencer, MD: Chief of Gastroenterology, Hematology and Nutrition, Boston Children’s
Phil Reilly, MD, JD: Venture Partner at Third Rock Ventures
Alvin Shih, MD, MBA: Chief Executive Officer at Enzyvant

Even at a place like Boston Children’s Hospital, where doctors regularly see children with rare diseases from all over the world, there are big challenges when it comes to drug discovery and treatment.

“Roughly 70 percent of drugs to treat children are used off-label,” says David Williams, Boston Children’s chief scientific officer. “That’s because these drugs were initially developed for adults and have not been tested formally in children.”

In order to cure rare diseases in children and adults, scientists must bridge the gap between research and industry. On May 25, Boston Children’s Technology and Innovation Development Office (TIDO) and MassBio held a candid panel discussion about what it will take to advance the development of rare disease therapies. Here are three of the biggest takeaways:

Rare disease panelists
From left to right: Wayne Lencer, Phil Reilly, David Williams and Alvin Shih

Establish sustainable drug pricing models.

The cost of treating lifelong diseases is gargantuan. Accordingly, value-based pricing models must appreciate that the cost of administering a one-time gene therapy capable of curing a disease pales in comparison to the cost of treating the symptoms of disease over the course of someone’s entire lifetime.

Patient involvement is essential.

In many cases, patients and their families are contributing their genomic data to research; they want to help the next generation and fuel discovery. As a result, deep gene sequencing is establishing a source of rich, mineable data about rare diseases. Genomic data such as this has been fueling cancer research for decades. Now, to advance rare disease research, informed genetic counseling must be an important part of the conversation between clinicians, patients and their families.

Seek alternative funding sources.

Now that we finally have the right tools (deep gene sequencing, gene editing technologies, etc.), capital is the biggest hurdle to advancing rare disease therapies. Researchers must look to capitalize drug development by partnering with industry and seeking other alternative funding sources. A paradigm shift is already underway; funding models are changing and becoming more patient-centric. Sometimes, patients themselves are co-founding companies seeking to develop new drugs. What’s more, industry is becoming more and more keen to invest in developing therapeutics targeting rare diseases. To keep things moving along and troubleshoot potential roadblocks, people who have been on both sides of academic research and industry need to be involved in these collaborations from the get-go.

Learn about the Manton Center for Orphan Disease Research and the Translational Research Program.