RARECast

Our interactions with the environment can have unexpected effects on our genes and trigger a biologic response that leads to the onset of disease. These interactions can also leave a measurable record in what’s referred to as the exposome. LinusBio, which emerged from the exposome laboratory at Mount Sinai Health System, has developed a test for autism that relies on analyzing a single strand of h...

Congenital pseudarthrosis of the tibia is a rare condition that can cause spontaneous fractures, mobility problems, and impede proper growth. It is treated surgically, but because the bone often breaks again, it can lead to amputation. Novadip is developing an autologous cell therapy to allow tissue regeneration of large bone defects. We spoke to Denis Dufrane, co-founder and CEO of Novadip, about...

CRISPR genome editing has the potential to revolutionize the treatment of diseases, but the imprecision of its editing abilities has limited its value. Emendo Biotherapeutics argues that rather than trying to make every disease fit into the standards CRISPR model, the answer lies in making CRISPR fit each disease. We spoke to Rafi Emmanuel, executive vice president of research and development for...

One of the challenges with rare diseases is how different their effects can be from one person to another. In order to get a deeper understanding of the impact and variation of the rare autoimmune condition myasthenia gravis on people, Argenx launched MyRealWorld MG, an app-based study that’s collecting real-world, longitudinal data from 2,000 patients over two years. We spoke to Deb Gelinas, neur...

When Terry Pirovolakis’ son Michael was diagnosed with the ultra-rare neurodegenerative disease spastic paraplegia type 50, he set out to raise money and engage researchers in developing a treatment. Now, after successfully dosing Michael with an experimental gene therapy as the first patient in a clinical trial, he has launched Elpida Therapeutics to develop multiple gene therapy programs for chi...

Parder-Willi syndrome is a rare, genetic disease that is characterized, in part, by hyperphagia—an intense and insatiable hunger. People with the condition are driven to constantly eat and seek out food. The syndrome is associated with severe obesity and obesity-related mortality. Tonix Pharmaceuticals is developing an experimental oxytocin nasal spray to treat hyperphagia in people with Prader-Wi...

A week before Deborah Ondrasik’s daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Foundation Vice President Sunitha Malepati about the CAC...

Amy Dockser Marcus, in her new book We the Scientists, tells the story of a group of parents of children diagnosed with the rare and fatal genetic lysosomal storage disorder Niemann-Pick disease type C. When they were confronted with the fact that no treatment existed or would likely be developed in time to save the lives of their kids, they began collaborating with themselves, researchers, and ph...

About 10 percent of children who are diagnosed with hearing loss at birth have an auditory neuropathy that is usually due to a genetic cause. One of the most common genetic causes of hearing loss is due to a mutation of the otoferlin gene, which encodes for a protein that enables communication between the sensory cells of the inner ear and the auditory nerve. Decibel Therapeutics is developing an...

While there is growing ability to pursue the development of therapies for ultra-rare diseases, they remain challenging because of economics. One major barrier is the difficulty in getting reimbursement for therapies in the absence of well-powered clinical trials that recruit enough participants to satisfy payors demands for adequate proof of the value of a therapy. The Muscular Dystrophy Associati...

Growth hormone deficiency is a rare condition that is the result of inadequate secretion of growth hormone from the pituitary gland. Though recombinant human growth hormone has long been used to treat people with pediatric growth hormone deficiency, it requires either daily or weekly injections and when injections are missed, results can be sub-optimal. Lumos Pharma is developing a once-daily oral...

GM1 gangliosidosis is a rare and deadly lysosomal storage disorder that causes progressive damage to neurons in the brain, as well as the heart, liver, bones and other tissues throughout the body. There are currently no approved therapies to treat the condition. Passage Bio, which has a collaboration with the Gene Therapy Program at the University of Pennsylvania, is developing a gene therapy to t...

A significant obstacle to getting patients to participate in rare disease clinical trials, particularly children, is the burden placed on patients and their families to address the logistical challenges of arranging travel, fronting expenses, and completing paperwork for reimbursement. In fact, nearly two-third of patients and caregivers say travel stopped them from participating in a clinical tri...

Debra Miller’s son Hawken was diagnosed with Duchenne muscular dystrophy at the age of 5. Rather than just accept his fate with the rare neuromuscular condition, Miller and her husband Paul launched CureDuchenne to stimulate the development of treatments and potential cures for the condition. The organization subsequently launched a venture philanthropy fund that, to date, has financed 17 research...

The ability to pinpoint the underlying genetic causes of diseases and rapidly generate genetic medicines to address them has created the potential for the development of individualized therapies to treat patients with ultra-rare diseases. EveryOne Medicines is seeking to industrialize this process and scale the development of N-of-1 therapies. We spoke to Irina Antonijevic, chief medical officer o...

Transthyretin amyloid cardiomyopathy, or ATTR-CM, is a progressive and potentially fatal heart disease. It is often overlooked because physicians tend to consider more common causes of heart failure. We spoke to Pfizer Vice President and North America Medical Lead Younos Abdulsattar and Pfizer Chief Medical Officer of Rare Disease Sonal Bhatia, about ATTR-CM; its disproportionate impact on the Bla...

Telomere biology disorders are a set of rare genetic diseases caused by a shortening of the protective DNA that appears at the ends of chromosomes. Between 80 and 90 percent of people with these conditions will suffer from bone marrow failure by age 30, the leading cause of mortality for people with these disorders. The only available treatment today is transplantation of donor human stem cells. E...

Limb-girdle muscular dystrophy type 2i is a rare, genetic condition that causes progressive muscle degeneration that can impact skeletal, respiratory, and cardiac muscles. As the condition progresses, people lose the ability to perform routine daily activities, such as walking or standing up without assistance. There are no therapies available today to slow, halt, or reverse the condition. ML Bio,...

The National Institutes of Health in November named Joni Rutter Director of the National Center for Advancing Translational Sciences. Rutter had served as acting director since April 2021. She succeeded Chris Austin, the first permanent director of NCATS, who stepped down after ten years on the job. NCATS is charged with developing technologies and approaches to accelerate the process of moving ne...

Casey McPherson hasn’t taken a typical path to becoming a bioentrepreneur. The singer-songwriter is the frontman for Alpha Rev, an up-and-coming indie band from Austin, Texas. Rather than focus on his music career, McPherson instead put his energy into finding a treatment for his daughter Rose, who was diagnosed with an ultra-rare, neurodevelopmental condition. The issues he faced in working with...

Fragile X syndrome is a rare, genetic, developmental disorder that is the leading known cause of both intellectual disability and autism spectrum disorder. People with the condition can have a range of behavioral symptoms, such as social avoidance and irritability. Zynerba is developing its experimental therapy Zygel, a topical cannabidiol gel that is delivered into the bloodstream through the ski...

When Stealth Biotherapeutics sought approval for its experimental therapy to treat the ultra-rare and life-threatening condition Barth syndrome, the U.S. Food and Drug Administration said it wouldn’t review its application because the clinical studies the company performed involved too few patients to make a determination about the efficacy of the drug. The notice was part of a history of interact...

Primary mitochondrial myopathies are a group of rare, often life-threatening disorders caused by genetic mutations that affect the energy needs of skeletal muscles and can impact the ability to walk, lift, or do other everyday activities. High energy tissues like the heart, brain, and muscle are most affected by these disorders. Currently, there are no approved drugs to treat people with these con...

In neurodegenerative diseases like ALS, cells in the brain suffer a decline in their ability to produce energy. These impairments help to drive the progression of these diseases. Clene Nanomedicine is developing a nanocrystal suspension of gold atoms that are small enough to enter mitochondria—the cellular organelles that power activity—to increase two critical energy metabolites to fuel cellular...

One of the greatest challenges emerging therapies face is being able to reach the tissues and cells in the body where they need to go to provide benefit. Rather than using viral vectors or lipid nanoparticles, Evox is harnessing exosomes, a natural transporter within the body, to carry therapeutic cargo to desired targets. The company has developed platform technology to modify exosome so it can l...