Short Bowel Syndrome is a life-threatening rare disease caused by a significant shortening of the gastrointestinal tract. Because of difficulties people with short bowel syndrome have properly absorbing nutrients they rely on receiving them through intravenous infusions. This has an impact on the quality of life of people with the condition and comes with a high risk of systemic infections. 9 Meters Biopharma is focused on rare gastrointestinal conditions. It is advancing an experimental therapy for short bowel syndrome. We spoke to John Temperato, president and CEO of 9 Meters Biophama, about short bowel syndrome, the company’s experimental therapy to treat the condition, and how the company has built its pipeline through two recent mergers.

Assembling a Pipeline for Rare GI Disorders

Ionis Pharmaceuticals has been a pioneer of antisense therapies, which target RNA to either disrupt production of a disease-causing protein or upregulate needed proteins in people who are deficient. The company is in late stage development of a promising therapy to treat Huntington’s disease, a rare and fatal neurodegenerative condition. But the company is also working on advancing a new generation of antisense therapies to improve the safety and efficacy of these treatments. We spoke to Eric Swayze, executive vice president of research for Ionis, about its experimental Huntington’s disease therapy, its efforts to treat the condition, and what the next generation of antisense therapies will look like.

Targeting Huntington's Disease with Antisense

Idiopathic pulmonary fibrosis is a family of lung diseases characterized by scarring and thickening of lung tissue leading to an irreversible loss of lung function and reduced life expectancy. In normal times, the dry and persistent cough the condition can cause, can have a big impact on a person’s quality of life, but in the midst of a pandemic where coughing is a sign of infection, it can be particularly isolating. Respivant Sciences is developing an experimental therapy that treats IPF patients who suffer from a persistent cough. We spoke to Bill Gerhart, CEO of Respivant, about IPF, what life with the condition can be like, and the company’s experimental therapy to treat the it.

Fighting the Persistent Cough in a Rare and Deadly Lung Disease

Narcolepsy is a rare neurological sleep disorder with limited treatment options. Avadel is working on a controlled-release formulation of the standard of care, sodium oxybate, that allows for a once nightly dose of the drug. We spoke to Greg Divis, CEO of Avadel, about the company’s experimental therapy for narcolepsy, how it improves on the existing standard of care, and how it breaks with the company’s existing base of business. Editor's note: We recorded this podcast in late June. During the interview, Divis discussed the company's hospital products.  On July 1, 2020, Avadel announced the sale of its hospital products portfolio to strategically focus on advancing FT218 through the FDA regulatory review process.

Improving Narcolepsy Therapy with Drug Delivery Technology

The debate over pricing of therapies often centers on the question of value and how to best determine it. The consulting firm Charles River Associates took an interesting approach to understanding the way payers view the pricing of rare therapies. Instead of asking them about pricing in terms of value, they asked about it in terms of fairness. We spoke to Andrew Parece and Matthew Majewski, both vice presidents with Charles River Associates, about how payers view the pricing of rare disease therapies, how context changes perceptions around pricing, and why they began questioning payers about the issue of fairness.

Payer Perceptions of Fairness in Pricing Rare Disease Therapies

Mirum Pharmaceuticals is advancing therapies for rare liver diseases. The company is preparing to file an application to seek marketing approval for its lead experimental therapy maralixibat for Alagille syndrome, a genetic disorder in which bile accumulates in the liver because of malformations of the bile ducts. We spoke to Chris Peetz, president and CEO of Mirum, about Alagille syndrome, its lead experimental therapy, and why the company also hopes to seek approval for the drug in the related rare disorder progressive familial intrahepatic cholestasis, or PFIC.

Mirum Prepares to Seek Approval for Rare Liver Disease Therapy

The world of health insurance can appear complex and confusing. For young adults with rare and chronic conditions, navigating their coverage options for the first time may also require them to consider access to specific physicians, services, and therapies. We spoke to Colleen Huysman, a clinical social worker with the Bridges Adult Transition Program at Boston Children’s Hospital, and Sneha Dave founder and executive director of the Health Advocacy Summit, about the issues young adults with rare and chronic condition need to think about as they seek health coverage, the types of choices they will face, and how to best go about navigating this dense and opaque world. As a note, look for more topics like this at this year’s Global Genes Live event and going forward as the organization moves to increase educational efforts around managing the financial challenges of living with a rare disease.

What Young Adults with Rare Conditions Need to Know About Health Insurance

RARECast has moved. You can find the latest episodes at https://globalgenes.org/rare-cast/. RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.

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