Developing Therapies for Rare Diseases: Patients Come First

By Marie Daghlian

Rare disease drug development is personal and often driven by patient advocacy. In a lively and engaging fireside chat titled “Unmet needs, uncommon commitment: shift toward investment in rare diseases,” Henri Termeer, an early advocate of rare disease drug development and a serial entrepreneur, Debra Miller, founder and CEO of patient advocacy group CureDuchenne, Phil Vickers, head of research and development at the rare disease specialty pharmaceutical Shire, gave their views on the importance of why patients are at the forefront of investment strategies in the space Alison Silva, CEO and president of the Canadian cancer biotech Critical Outcome Technologies, was the moderator.

The discussion, co-hosted by Rare in the Square and Biotech Showcase, took place during the annual J.P. Morgan Healthcare/BioWeekSF 2017 in San Francisco. A networking reception, hosted by Shire took place after the chat.

Debra Miller became an advocate fifteen years ago after being told that there was nothing anyone could do for her son who was diagnosed with Duchenne muscular dystrophy. She and her husband decided to make it their mission to fund research in the space and push to translate that research into therapies for the disease. They made an investment into a tiny Dutch biotech called Prosensa, which paid off after BioMarin Pharmaceuticals bought the company in 2015. Though Prosensa’s drug failed in trials, they used the money from that deal to invest in four other biotech companies and an academic research center.

“I’m a big believer that in the rare disease space, we need to get the industry involved early and use patient groups’ deep knowledge of the disease to de-risk these projects, and partner to get these drugs approved,” she said.

CureDuchenne has worked tirelessly with companies and the FDA to press this idea home. She said that BioMarin recently transferred its natural history database to CureDuchenne to maintain and use for research purposes.

Phil Vickers concurred, observing that the paradigm for research in the rare disease space is different than for more common diseases. “Investment in natural history studies is important for understanding the disease and necessary for designing clinical studies,” said Vickers. “We engage patient groups before making business decisions.”

“Almost no rare disease work goes on in a company without patients having had a hand in starting that effort,” said Henri Termeer, who has been involved in many activities in this space. “There is always a patient in the mix.”

Termeer went on to tell the story of meeting a successful tech entrepreneur whose son had just been diagnosed with cystic fibrosis. He decided to dedicate the rest of his time to helping his son by finding a “cure.” This was in 2011. He went on to found a company that has since gone public and is in the clinic with good proof of concept data. “That an individual can create so much energy and drive is remarkable,” said Termeer. “This is not an unusual story in this space. Patients are the essential ingredient.”

For Termeer, working on treatments for rare diseases involves a deep commitment. You get to know the patients and become a lifeline for them. Vickers, agreed. “The connection to patients is central to our business,” Vickers said.

“Big and small companies—the commitment to the patient is profound—the emotional involvement that these companies have with the patients,” Miller said. She noted that the industry sees value in what the patient groups have to offer as far as patient registries and education. Social media has also been important in organizing patient groups and outreach.

As far as investment models that work, Miller said there are all types, but the important thing is that patient advocacies get a return on their investment. “When you have a child with that disease, returns will be plowed back into research,” she said. “Whatever the actual vehicle you use to invest, it is important to have some sort of skin in the game and a return if possible.”

There are 7,000 known rare diseases and therapies for about 350 of them. Not that long ago, big pharmaceutical companies had little interest in developing therapies for which there are so few patients. But over the past few years it has become an important therapeutic area of interest for investors and pharmaceutical companies for various reasons—great unmet need, and a potentially faster path to approval with an easily identifiable patient population and smaller clinical trials.

Silicon Valley entrepreneur Matt Wilsey decided to invest in rare disease research after he learned that his daughter had a rare and debilitating disease called NGLY1 deficiency. It is so rare that only forty patients have been identified worldwide. He and his wife established a foundation and hope to soon launch a for-profit company to develop a therapy for the disease. The foundation’s model involves shared data among scientists around the world, and includes industry, academic, and government partners.

An important reason that drugmakers are embracing rare diseases, Wilsey believes, is they are realizing that these ultra-rare diseases are windows into much bigger, much more common diseases. “Those working in rare disease are seeing pathways in common with other diseases,” Wilsey says.

Basic research into this disease can also open up understanding of biology. “We’re seeing the same thing with cancer and neurodegeneration to our disease. We are going to go after those indications as a for-profit company.”

For patients with rare diseases and their advocates, it is personal. One in ten people is affected in some way by rare diseases. For those working to find treatments and cures, it is personal. They get to know the patients whose lives they hope to change.

Says Termeer: “Nothing can compare with the opportunity to change the life of patients and families.”

MORE on this panel plus video:
Unmet needs, uncommon commitment: The shift toward investment in rare diseases