Rarecast

Kezar Life Sciences is developing therapies for immune-mediated disorders and cancer. It’s lead experimental therapy is in development for the rare autoimmune condition lupus nephritis. It is a first-in-class therapy that targets master regulators of cellular function. We spoke to Noreen Henig, chief medical officer for Kezar, about lupus nephritis, the company first-in-class candidate to target the condition, and why it may have application in a broad range of autoimmune diseases.

In 2006, at the age of 29, Ben Munoz suffered a stroke from a rare condition known as arteriovenous malformation. One of the things that were critical in his treatment and recovery was the connection he was able to make with another person who had the same condition and had experienced what Munoz was going through. Munoz co-founded the nonprofit Ben’s Friends, which operates an expanding set of patient communities for people with specific rare conditions to connect and support each other. We spoke to Munoz, about his own experience with a rare condition, the role support from someone with his own condition has played, and his efforts to create a forum where patients with specific conditions can connect and provide support to each other.

It began as a Facebook post for someone looking for help getting a child with a rare neurological condition whole genome sequencing. It resulted, though, in groundbreaking work by Timothy Yu, a neurologist and attending physician in the Division of Genetics and Genomics at Boston Children’s Hospital to develop a custom antisense oligonucleotide therapy for the little girl, who had a rare form of the neurodegenerative condition Batten disease. The work to design and deliver an antisense therapy in under a year has excited the rare disease community for the potential of individualized therapy that address the underlying genetic mechanisms of rare diseases. We spoke to Yu about his work, the potential to industrialize the creation and delivery of individualized therapies for rare disease patients, and the challenges that need to be addressed.

Clinton Moore was a reluctant rare disease advocate. It took several years for him to become engaged in the rare disease community after his son Chandler was diagnosed with cystinosis, a rare, genetic, metabolic disease. Moore, who today is president of the Cystinosis Research Network, can add filmmaker to his credits. Moore tells his son’s story in a full-length documentary Walk in My Shoes. The film, which is available for free on YouTube, offers a view into the daily life of a boy and his family dealing with a rare disease. We spoke to Moore about his son’s rare disease journey, his own emergence as an advocate, and how he came to recognize the power of an individual to make a difference.

Venous and lymphatic malformations are types of congenital vascular anomalies that are present at birth. These malformations can cause a number of complications including pain, bleeding, and impairment of the affected area. Current treatments options are limited and there are no drugs approved for these conditions. Venthera, a BridgeBio affiliate, is developing a topical gel for the treatment of venous and lymphatic malformations that targets signaling pathways that drive them. We spoke to Thom Rossi, CEO of Venthera, about the company’s lead experimental therapy, its first-in-man-trial, and how it is leveraging the resources of BridgeBio.

Niemann-Pick disease is a rare and often-fatal genetic, metabolic disorder with no approved treatments, but that could soon change as new therapies advance through the development and approval process. In anticipation of the first therapies for the disorder becoming available, the National Niemann-Pick Disease Foundation has been working to prepare patients and their families for new obstacles they may need to navigate to obtain access and reimbursement for these treatments. We spoke to Joslyn Crowe, executive director of the National Niemann-Pick Disease Foundation, about what her organization is doing to prepare the community for the availability of the first therapies for the conditions, the issues people will need to consider, and how families may need to think differently about their futures.

Cara O’Neill was a practicing pediatrician, but after her daughter was diagnosed at age 3 with Sanfilippo syndrome, she turned her attention to driving research into the rare lysosomal storage disorder. Today, O’Neill serves as the chief science officer of Cure Sanfilippo Foundation, an organization she and her husband founded. It has since funded $6.5 million in research through more than 20 scientific projects and clinical trials. We spoke to O’Neill about Sanfilippo syndrome, her journey from physician to advocate, and her efforts to craft a research agenda.

Chiasma is developing oral formulations of injectable drugs using its proprietary drug development technology. This allows therapies that would normally break down in the stomach to reach the small intestine, where they can be absorbed. At the end of June, the company won approval for Mycapssa, the first and only oral therapy to treat acromegaly, a rare condition in which the overproduction of growth hormone can lead to serious health conditions. It was the first drug approved using the company’s drug delivery technology. We spoke to Raj Kannan, CEO of Chiasma, about the company’s recently approved therapy for acromegaly, the company’s drug delivery technology, and the value of having oral alternatives to injectable therapies.

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.

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.

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.