RARECast

Osteosarcoma is a rare and aggressive bone cancer that usually affects children and teenagers. Over the past 40 years, there’s been little progress to improve survival rates, with the five-year survival rate stagnant at about 60 to 70 percent for localized disease and 15 to 30 percent for metastatic osteosarcoma. OS Therapies is developing an experimental immunotherapy to treat certain osteosarcomas. We spoke to Paul ...

When Paul Biderman was born, he had trouble gaining weight. He grew sicker and, at about six months, he was diagnosed with the ultra-rare genetic disease abetalipoproteinemia, a condition that impairs a person’s ability to absorb fats and fat-soluble vitamins. The condition requires adherence to a strict diet and a regimen of daily vitamin supplementation, which he didn’t always follow. Now approaching 60, Biderman suffers...

Spinocerebellar ataxia includes a group of rare, genetic, neurodegenerative disorders. People with the condition suffer from the loss of balance, coordination, and muscle control. As the condition progresses, people can lose the ability to walk and speak. There is no approved treatment for SCA, but Biohaven has applied to the U.S. Food and Drug Administration to begin marketing its experimental therapy troriluzole, which c...

Netherton syndrome is a rare and chronic skin condition. One in ten infants with the disease will die as a result of infections and related complications. Azitra has developed a platform for engineering bacteria that naturally colonize the skin to produce proteins with therapeutic benefits to treat Netherton syndrome and other conditions. We spoke to Travis Whitfill, co-founder and chief operating officer of Azitra, about ...

Emerging cell and gene therapies represent areas of great promise for people with rare, genetic diseases, but the translation gap for these medicines can leave them stalled at the lab. Mass General Brigham in 2022 launched the Gene and Cell Therapy Institute, a research hub dedicated to advancing gene and cell therapies for various diseases to bridge the divide between academic labs and clinical development of therapies. T...

Raziel Green lost both her mother and aunt to the rare neurodegenerative disease amyotrophic lateral sclerosis or ALS. But when Green, a runner, began experiencing muscle weakness and falls, doctors failed to recognize that she had a genetic form of the condition. Two years after she first sought care, she was diagnosed with the SOD1 form of the disease and enrolled in a clinical trial of what would become the antisense ol...

While traveling in Australia, Russ Walter was taken to the hospital and treated for heart palpitations. When he returned home, he soon lost the ability to walk. He was diagnosed with the rare autoimmune condition Guillian-Barre syndrome and spent three months in intensive care and rehabilitation. It would take nearly a year of physical therapy before he could walk again. We spoke to Walter, liaison and board member of the ...

Organoids, three-dimensional cell models that can replicate an individual’s organs, are valuable tools for testing medicines that might treat their illness. It can, however, take up to $10,000 and a year to grow organoids using conventional methods from patient-derived induced pluripotent stem cells. Researchers at Children’s Mercy Kansas City’s Genomic Medicine Center developed a way to do this from about $200 and in two ...

IgA nephropathy is a rare autoimmune kidney disease that can lead to the loss of kidney function. Though a number of treatment options exist today, none address the root cause of the disease and instead seek to manage symptoms, slow progression, or prevent complications. Vera Therapeutics’ experimental fusion protein atacicept, in a phase 2B study, showed the ability to provide long-term kidney function stabilization. We s...

When Katrina Rice’s son was diagnosed with the rare, hematological disorder sickle cell disease, she got to spend a lot of time understanding how a rare disease affects the daily life of people with a condition and their caregivers. Her son, now 28, has become a participant in clinical trials, and that’s further broadened Rice’s perspective as chief delivery officer of biometrics services at the clinical trial data managem...

In 2023, Acadia Pharmaceuticals won approval for Daybue, the first and only treatment for the rare, neurodevelopmental disorder Rett syndrome. Daybue is not a cure and Acadia continues to pursue additional therapies for the condition including an antisense oligonucleotide therapy to upregulate a protein people with Rett syndrome lack. We spoke to Elizabeth Thompson, executive vice president and head of research and develop...

When Patty Keating had her thyroid removed, she experienced what she described as a “buzzing in her face,” had trouble sleeping, and felt anxious. Her symptoms grew worse and she had trouble climbing stairs. Then, six months later, her heart started racing, and her husband rushed her to the hospital, where tests showed she was having a heart attack. But when doctors performed catheterization to clear a blockage, they found...

Earlier this year iECURE reported that an infant with the rare and deadly liver disease OTC deficiency had a complete response to its experimental gene editing therapy. It is believed to be the time that an infant was treated with an in vivo, liver-directed gene editor. The treatment restored ammonia levels in the child’s blood to normal and the child is off of ammonia scavenger medicines and is eating a normal diet. We sp...

Healx, which developed an AI platform to repurpose drugs for rare diseases, is among the first generation of companies built on an AI drug discovery engine. The company’s lead experimental therapy, which the U.S. Food and Drug Administration granted Fast Track designation to in October 2024, is in mid-stage development for neurofibromatosis type 1, a rare genetic condition that causes tumors to grow on nerves. A deal at th...

Primary immunodeficiency disorders include more than 400 conditions, and a growing number of people are being recognized as having them as a result of improved diagnostic tools and greater awareness among physicians. Most treatments for these conditions are plasma-derived therapies sourced from donors. We spoke to Joerg Schuettrumpf, chief scientific innovation officer at Grifols, about the changing landscape for these con...

In November, Citizen Health unveiled itself with $14.5 million in funding and a partnership with the Chan Zuckerberg Initiative. A reinvention of what began life as Ciitizen, Citizen Health takes a sharp focus on rare disease, a departure from its precursor, which was initially envisioned as a tool for cancer patients to gather all of their health data in a single place. We spoke to Citizen Health Co-Founders Farid Vij and...

Michelle Teng, a techbio entrepreneur, co-founded the H-ABC Foundation after her daughter was diagnosed with the ultra-rare and fatal leukodystrophy. The foundation funded research that identified the causal mutation of the condition and pointed the way to a potential therapy. Teng later joined with Dan Williams to co-found SynaptixBio to advance that work and develop an experimental antisense oligonucleotide therapy to si...

Gene therapies that use viral vectors generally are not redosable because once patients are exposed to the virus used to insert the gene, their immune system will become activated against them. Immusoft is using a patient’s own B cell and engineering them to produce needed proteins by transforming them into biofactories without the use of a viral vector. The company’s lead experimental therapy is an autologous B cell thera...

BridgeBio has been an innovator in applying portfolio theory to its business model as a way to broaden access to capital. The company recently had a big win with its approval for Attruby, its treatment for the rare condition transthyretin amyloidosis cardiomyopathy. The approval is a boost for the company, which, like many biotechs, had to scale back on programs in the face of the downturn in capital markets in recent year...