RARECast

Charles Rivers Associates’ Andrew Parece and Matthew Majewski discuss how payers view the pricing of rare disease therapies, how context changes perceptions around pricing, and why they began their questioning of payers around the issue of fairness.

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.

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.

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.

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.

Huntington’s disease is a rare and fatal neurodegenerative condition that is without any disease-modifying therapies today. Vaccinex is developing an experimental therapy designed to treat Huntington’s disease by addressing neuroinflammation, a hallmark of the condition that it shares with other neurodegenerative diseases. We spoke to Maurice Zauderer, president and CEO of Vaccinex, about the role of neuroinflammation plays in Huntington’s disease, its experimental therapy to treat the condition, and why it may provide benefits to people with other neurodegenerative diseases.

When Sandra Bedrosian Sermone grew frustrated by the slow pace of a drug developer working to advance a potential therapy for ANDP, a rare condition her son has, she and another parent of a child with neurodevelopmental disorder began to search for a potential drug to repurpose. Their work suggested low doses of the powerful anesthetic ketamine could up regulate activity of the ADNP gene and provide benefit to patients. Now, a clinical trial of low-dose ketamine is getting underway thanks to their efforts. We spoke to Bedrosian-Sermone, founder and president of the ADNP Kids Research Foundation, about ADNP, her efforts to find a potential treatment for it, and how a patient advocate without formal science training can alter the therapeutic landscape for a rare disease.

When the COVID-19 pandemic hit, it disrupted all aspects of daily life. Many drug developers were forced to suspend clinical trials because of the challenges of brining participants into medical centers with the risk of infection and the strain on healthcare workers. Palvella Therapeutics, which is developing an experimental therapy for a rare skin condition has been able to navigate the pandemic and continue its clinical study without disruption thanks to recognize the challenge early and adjusting its study plans accordingly. We spoke to Kathy Goin, vice president of development operations for Palvella Therapeutics, about its ongoing study, how it managed to continue unimpeded during the pandemic, and why she expects changes the company made will have a lasting effect on how it conducts clinical studies in the future.

Chris Austin calls himself an evangelist for collaboration when it comes to rare disease drug development. The director of the National Institutes of Health’s National Center for Advancing Translational Sciences said it is essential for rare disease advocates to look beyond their own diseases to recognize commonalities between their conditions and others to find opportunities to collaborate. We spoke to Austin ahead of his keynote address at this year’s Global Genes Rare Drug Development Symposium June 11, about why collaboration is critical to accelerating research, how broadly organizations should think about collaborations, and how patient groups can best work with NCATS to leverage the resources it has.

When Penny Howard’s daughter Harper died in 2016 from the rare neurodevelopmental condition CDKL5 deficiency disorder, Howard and her husband donated her brain and other tissue to research. The donation provided researchers with the first brain of someone who had CDKL5. Today, Harper’s cell lines live at the University of California, San Diego and are used to provide cells to researchers from around the world. Her brain tissue is at the Harvard Brain Tissue Resource Center. We spoke to Howard, founder and president of Hope4Harper, about her daughter’s life and death, the decision to donate her brain, and her journey to becoming an advocate for organ donation.