RARECast

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...

Terry Pirovolakis became immersed in the world of rare disease after his son Michael was diagnosed with spastic paraplegia 50, an ultra-rare and progressive neurodegenerative disease. Later this month, interdisciplinary teams from around the world will gather as part of a 30-day hackathon to develop therapeutic strategies for Michael’s condition. We spoke to Pirovolakis about Michael’s disease, ho...

David Giljohann likens his company’s spherical nucleic acid (SNA) constructs to Koosh balls. But instead of having elastic strings extending from their core, this new class of immunomodulatory and gene regulating drugs are covered with nucleic acids that stick out in all directions. The arrangement allows these oligonucleotides to be taken up by all cell types and can be delivered throughout the b...

Protalix Biotherapeutics plant cell-based platform has been a point of differentiation for the company, a faster and more scalable way of producing protein therapeutics. The company first product, an enzyme replacement therapy for Gaucher disease, offered a proof of its approach. The company is pursuing therapies for Fabry disease and cystic fibrosis, as well as inflammatory diseases, but it is al...

Antisense pioneer and Ionis Pharmaceuticals Executive Chairman Stanley Crooke has launched a nonprofit to design and deliver custom RNA-targeted therapies free of charge for individual patients with ultra-rare diseases. The organization, n-Lorem Foundation, will leverage Ionis’ technology platform to speed the discovery and development of custom antisense oligonucleotide. We spoke to Crooke about...

One of the reasons for the clinical failure of drugs is that animal models often fall short as predictors of how a drug will work in humans. StemoniX believes it can cut the time and cost of drug discovery with its microOrgans that are engineered from human induced pluripotent stem cells. These microOrgans can be used for high throughput human drug screening without the need for drugs to enter a h...

In December, Castle Creek Pharmaceutical Holdings completed its acquisition of Fibrocell. The deal brought together two companies developing therapies for rare skin disorders. We spoke to John Maslowski, CEO of the combined company, about its late-stage gene therapy in development for recessive dystrophic epidermolysis bullosa, how it differs from what is conventionally thought of as gene therapy,...

ALS is a progressive neurodegenerative disease. As motor neurons die, people with the condition grow weaker and lose motor function. For most, death occurs within three to five years of diagnosis. Brainstorm Cell Therapeutics is conducting a phase 3 clinical trial of its autologous stem cell therapy that programs cells taken from patients to produce neuro-protective factors that promote the surviv...

Earlier this month, Origin Biosciences initiated a rolling submission with the U.S. Food and Drug Administration for approval to market an experimental therapy to treat the ultra-rare metabolic condition molybdenum cofactor deficiency (MoCD) Type A. The condition manifests itself shortly after birth and leads to difficulty feeding and intractable seizures. Children with the condition have a median...

There is no clear agreement as to what constitutes a rare disease, the actual number of rare diseases, and how individual rare diseases are defined. The lack of clarity on the matter is not just an academic issue. The consequences of this, say researchers, is that it slows the diagnostic process and impedes the development of needed therapies for these conditions. In a recent commentary in the jou...

Drug developers and regulators are rapidly expanding the use of real-world evidence to develop rare disease therapies, but a new report finds payers are far less enthusiastic about incorporating such data in evaluating the value of therapies. The report from Syneos Health found payers have concerns about a lack of standards and have gaps in their understanding. We spoke to Meg Alexander, head of t...

Rich Horgan was attending Harvard Business School when he started reaching out to leading researchers to learn about his brother Terry’s condition Duchenne muscular dystrophy and what could be done to accelerate efforts to find a cure. Horgan was taken with the work of Timothy Yu to develop a customized therapy for a young girl with a form of the rare neurological condition Batten disease and foun...

Expanded access—a means of allowing people with serious and life-threatening conditions who fail to meet the enrollment criteria of a clinical trial to gain access to experimental therapies —has become an area of growing interest among the rare disease community. Though so-called right-to-try legislation has allowed patients to bypass regulators, it has done little to address the true obstacles pa...

When Kyle Bryant was diagnosed with the rare neuromuscular disease Friedreich's ataxia, it upended his sense of himself and his future as he began to wrestle with feelings of anger and depression. His life changed, though, when he read about a man with multiple sclerosis and his use of a recumbent trike, an adult-sized tricycle with a reclined seat. Bryant was inspired and shortly planned a cross-...

Keisha Greaves was studying for a career in fashion and business when she was diagnosed with limb-girdle muscular dystrophy, a rare and progressive neuromuscular condition. Rather than let her disease sidetrack her entrepreneurial vision, she has used it as a source of inspiration. She launched Girls Chronically Rock to produce T-shirts and adaptive clothing that celebrates and empowers people wit...

Seth Rotberg and Kristina Wolfe have each felt the isolation of entering adulthood in the shadow of rare and chronic disease. Rotberg, whose mother was diagnosed with Huntington’s disease, had genetic testing as a college student that showed he too will develop the neurodegenerative condition. Wolfe has grown up with type 1 diabetes. The two founded Our Odyssey to help young adults connect, find s...