RARECast

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 v...

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 co...

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 par...

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 generatio...

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 Mete...

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...

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 provi...

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...

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 sp...

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 arou...

AMO Pharma is developing drugs for a variety of rare neurologic conditions with a pipeline of experimental therapies seeking to treat Phelan-McDermid syndrome, congenital myotonic dystrophy, and Rett syndrome. The company believes it can advance therapies efficiently by acquiring molecules that have already been studied at either a preclinical or clinical stage and jump starting their development...

Imago BioSciences is developing therapeutics that change the behavior of malignant blood cells by targeting an enzyme that regulates gene transcription. LSD1 is an epigenetic enzyme that controls how genes are turned on and off in specific cells and plays a key role in the rare bone marrow cancer myelofibrosis. We spoke to Hugh Reinhoff, Jr., CEO of Imago, about myelofibrosis, the company’s experi...

Earlier this year Chiesi Farmaceutici established Chiesi Global Rare Diseases, a new business unit to advance research and product development for rare and ultra-rare diseases. The unit, headquartered in Boston, has an initial focus on lysosomal storage, hematologic, and ophthalmologic disorders. We spoke to Giacomo Chiesi, head of Chiesi Global Rare Diseases, about the company’s approach to build...

Rafael Pharmaceuticals is focused on developing therapies that act on the metabolism of rare cancers. It designs drugs that attack regulatory processes that are unique to cancer cells and not found in healthy ones. Its lead drug candidate, devimistat, targets enzymes that are involved in cancer cell energy metabolism and found in the mitochondria of cancer cells. We spoke to Sanjeev Luther, presid...

When Keith McArthur’s son Bryson was born, he was a happy and loving baby. Soon, though, Bryson began missing developmental milestones and doctors determined he had a neurological disorder. After nearly a decade, Bryson was diagnosed with a variant in his GRIN1 gene. Keith McArthur, who today is CEO and head of science for the CureGRIN Foundation, tells Bryson’s story in an eight-part podcast seri...

There are a number of rare disease where a genetic mutation results in the deficiency of an enzyme or other critical protein that can lead to a progressive or life-threatening condition. Patients have been treated with the chronic administration of recombinant versions of the proteins they lack. While this provides benefit, it requires regular infusions or self-administered shots, is costly, and d...

Gene therapies to treat retinal diseases promise to reverse blinding conditions, but the approach most gene developers take is to replace a mutated gene underlying a genetic disease with a functional version of that gene. The problem is that this approach can only address a narrow set of patients with each gene therapy. Ocugen, which Is developing gene therapies for eye diseases, believes it can t...

WHIM syndrome is a rare, inherited, primary immunodeficiency disease caused by mutations to the CXCR4 receptor gene. Because of the role CXCR4 plays in the immune system, it is implicated in a number of rare diseases. X4 Pharmaceuticals, a company founded by rare disease pioneer Henri Termeer and other Genzyme alums, is developing a pipeline of CXCR4-targeted therapies. We spoke to Paula Ragan, co...

Syros Pharmaceuticals is developing a platform for targeting the regulatory genome with therapies to address diseases at a fundamental level. At the end of last year, the company entered into a collaboration with Global Blood Therapeutics to develop new therapies for sickle cell disease and beta thalassemia. Under the collaboration, Syros is using its platform to discover drugs that turn on the pr...

Forma Therapeutics had long been a platform-based drug company that used high-throughput screening to discover new drugs that would be developed by partners. After many years, Forma began transitioning to become a fully integrated therapeutics company focused on rare blood disorders and cancer. It brought in Frank Lee, who had been a senior vice president of global product strategy at Genentech, a...

FSHD is a rare, progressive, muscle wasting disease that affects the face, shoulders, and arms before advancing to the lower body. Like many rare conditions, it is caused by an underlying genetic mutation. Fulcrum Therapeutics is developing an experimental therapy for FSHD, the lead candidate in a pipeline of medicines that target the root causes of genetic diseases. We spoke to Robert Gould, pres...

Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity. It is a rare and complex condition that is characterized by unrelenting hunger, or hyperphagia, as well as intellectual disability, short stature, and incomplete sexual development. Millendo Therapeutics is developing livoletide, an experimental, first-in-class therapy that treats hyperphagia by targeting...

As rare disease patients and advocates seek to raise awareness around the globe for World Rare Disease Day at the end of February, one notable place they will gather is on Capitol Hill in Washington, D.C. It’s become an annual tradition for rare disease advocates to talk face-to-face with lawmakers to bring the abstractions of rare disease down to a human level and speak about the needs patients a...

Fibroblast growth factors are a group cell signaling proteins that play a critical role in growth and development. They have been implicated in achondroplasia, the most common genetic form of dwarfism, but these growth factors are also involved in a number of rare cancers. QED Therapeutics, a BridgeBio company, is developing infigratinib, an experimental tyrosine kinase inhibitor that targets mult...

Conducting rare disease clinical trials can be challenging because of small and geographically dispersed groups of patients who may face difficulties in travelling to trial sites. Regulatory requirements for cell and gene therapies, even if only administered once, require long-term follow ups that extend for many years and provide an ongoing burden for patients. Jeeva Informatics Solutions is seek...