RARECast

Hereditary angioedema is a rare and potentially life-threatening genetic disease that causes sudden and prolonged swelling to various parts of the body. While there are therapies available today, they require either injection or infusions, carry inconvenient dosing regimens, and can cause undesirable side effects. Pharvaris is developing an oral therapy to treat HAE that it says could provide an e...

James Geraghty has had an up-close view of the rise of the rare disease drug industry as an entrepreneur, investor, and executive. Now he’s added the additional title of “author” with his new book “Inside the Orphan Drug Revolution.” Geraghty looks back through the past 40 years of his career starting with the passage of the Orphan Drug Act in 1983. We spoke to Geraghty about the catalysts that ga...

When Emily Rapp Black’s son Ronan was diagnosed with the rare and fatal condition Tay-Sachs disease, she turned to writing to make sense of her grief, what his short life would be, and what it meant to be his mother. Her memoir “The Still Point of the Turning World,” was written during Ronan’s life. Eight year’s later she wrote a companion memoir “Sanctuary” in which she explores learning to live...

Alok Tayi thinks the biggest obstacle to treating patients with rare diseases isn’t finding potential treatments but funding them. Vibe Bio, a decentralized autonomous organization, is building a community of patient advocates and investors where holders of a crypto currency token Vibe sells each get to vote on how to invest its pool of money in rare disease drug development efforts. Once a decisi...

X-linked adrenoleukodystrophy is a rare, inherited, neurodegenerative disease. It is a debilitating and chronic condition that is characterized by progressive weakness, stiffness, and muscle spasms, as well as sensory dysfunction, and incontinence. There is currently no approved treatment. Minoryx raised $51.4 million in May to support the application for marketing approval of its X-ALD therapy in...

Oligonucleotide therapies can target the root cause of many diseases through the modulation of RNA expression and processing. Despite the promise of these medicines, their development has been limited by delivery challenges because they are not able to adequately reach heart and skeletal muscle, the critical affected tissues in neuromuscular diseases. PepGen is advancing next-generation oligonucle...

While biologics and gene therapies have altered what it means to have a rare disease for many people, one problem with these treatments is that they can trigger an immune response that can make a patient ineligible for gene therapies or render a medicine ineffective. Selecta Biosciences is developing a platform technology called ImmTOR that trains the immune system with precision not to react to s...

Jenn McNary is a mother of children with rare conditions, as well as an outspoken advocate who has sought to elevate the patient voice in rare disease drug development. She was responsible for the organization of the largest FDA advisory committee hearing in history, with more than 1,000 Duchenne Muscular Dystrophy advocates, families, clinicians, and researchers in attendance. Now, as executive d...

Clinical trials can get derailed for a variety of reasons that may have nothing to do with whether a drug works or not. Lokavant has developed an artificial intelligence platform that tracks disparate sources of clinical trials data in real time and through its predicative abilities alert companies to potential problems as they begin to emerge. The company said the system not only saves clinical t...

Last year, the Retinal Degeneration Fund, a venture philanthropy established by the patient advocacy organization Foundation for Fighting Blindness, spun out Opus Genetics to develop gene therapies to treat rare, inherited, retinal diseases. The patient organization’s then CEO Ben Yerxa, who also headed the RD Fund, recently became the full-time CEO of Opus. We spoke to Yerxa about the genesis of...

African Americans are four times more likely than Whites to suffer from end-stage kidney disease. In part, that’s because of genetic causes underlying kidney-disease being more common in people of African descent. A recent study suggests that genetic testing and genetic counseling to patients of African ancestry changed behaviors and lowered their risk of developing kidney disease. We spoke t...

The U.S. Food and Drug Administration’s Accelerated Approval pathway allows for the use of surrogate endpoints to make therapies more quickly available for unmet medical needs. About 82 percent of the drugs approved under the designation have been for orphan indications. But controversy around its use to win approval for Biogen’s Alzheimer’s disease drug Aduhelm last year set lawmakers off on an e...

In February, ProJenX launched to develop novel, brain-penetrant therapies that target defined pathways for the treatment of the rare neurodegenerative condition amyotrophic lateral sclerosis and other brain diseases. ProJenX lead candidate is prosetin, an experimental therapy developed through a collaboration between Project ALS and researchers at Columbia University. We spoke to Stan Abel, CEO of...

Dravet Syndrome is a severe genetic epilepsy characterized by lifelong seizures and neurodevelopmental impairment that starts in infancy. Camp4 is developing an RNA therapy that it believes can reduce the frequency and severity of seizures, or eliminate them, by upregulating a gene that underlies the condition. We spoke to Ann Barbier, chief medical officer of Camp4 Therapeutics, about Dravet synd...

Plasmacytoid dendritic cells or pDCs are immune cells that help the body fight infections but in certain chronic autoimmune condition these cells can become continuously activated and cause the body to attack itself. Horizon Therapeutics is developing an experimental monoclonal antibody known as daxdilimab that can get certain immune cells to deplete the pDC and shut down chronic inflammation in t...

As a scientist seeking funding to do rare disease research, Olivier Menzel confronted the lack of interest from funding sources. He eventually created the Blackswan Foundation to support research on any type of rare disease. Since then, the foundation has held scientific conferences, raised awareness about rare disease, and been involved in a large number of projects and collaborations around the...

Stoke Therapeutics platform technology allows it to target genetic diseases where people have one functional copy of a gene and one mutated copy. As a result, they can only produce half as much protein as they need to maintain health. Stoke seeks to restore missing proteins by increasing the protein output from healthy genes to compensate for the non-functioning copy of the gene. The company’s lea...

After Alon Ben-Noon had a chance meeting with patient advocate Shay Rishoni, who suffered from the neurodegenerative condition ALS, he was so inspired by the experience that it led to his founding of NeuroSense Therapeutics to find a treatment for the condition. The company is pursuing synergistic combinations of existing therapies to go after biologic targets underlying the core pathologies of th...

The Russian invasion of Ukraine that began at the end of February has caused more than 5 million people to flee the country as the brutal assault has not spared civilian populations, schools, or hospitals. For people with rare diseases, the war has sent families in search of needed medications and care as they have crossed the border in search of help. Healthcare Education Institute, a Poland-base...

Genomics England is working to embed genomics into healthcare, enable research, and improve the diagnosis and treatment of patients. In 2018, it completed enrollment of its first initiative—the 100,000 Genomes Project—and is working on a new initiatives to explore the benefits and challenges of sequencing and analyzing the genomes of newborns. We spoke to Ellen Thomas, clinical director and direct...

Many people living with a rare and undiagnosed disease face a prolonged diagnostic odyssey that can be financially and emotionally taxing as they seek to put a name to what ails them. Co-founder and executive director of the Rare and Undiagnosed Network Gina Szajnuk and Co-founder and acting executive director of the Undiagnosed Diseases Network Foundation Cristina Might, both know what the search...

One of the challenges of delivering enzyme replacement and other therapies to treat rare diseases is the questions of how to best deliver them. EryDel is developing therapies that can be encapsultated in a patient’s red blood cells through its proprietary, point-of-care device. We spoke to Luca Benatti, CEO of EryDel, about the company’s technology for encapsulating medicines in red blood cells, i...

Mary Mecham, a mother of two children with rare genetic disorders to whom she reads every day, grew frustrated by the lack of books that had characters who resembled her children. She began to search for stories that featured people with disabilities and met authors with disabilities who wrote about their own struggles. To share these works, she created Disability Book Week, which runs from April...

When Julia Vitarello learned that her daughter Mila had the CLN7 form of the deadly, neurodegenerative condition Batten disease, it set her off on a search for a treatment that resulted in the development of a customized antisense oligonucleotide. In the wake of Mila’s case, a movement has emerged to develop so-called N-of-1 therapies for people with ultra-rare conditions. Vitarello, along with Bo...

Recessive dystrophic epidermolysis bullosa is a rare, genetic, progressive condition caused by the deficiency of collagen type VII. People with severe cases of the condition suffer from blistering, vision loss, disfigurement, and other serious medical problems. Castle Creek Biosciences is developing a therapy that involves genetically modifying a patient’s own fibroblasts—the cells in the connecti...