RARECast

Pediatric and primary hyperoxaluria is a rare genetic condition that causes over absorption of oxalate, a compound found in many foods. Too much oxalate can lead to the formation of kidney stones and cause progressive damage of the kidneys. Allena Pharmaceuticals is developing an oral enzyme to treat both the rare form of hyperoxaluria and a more common form of the condition. We spoke to Louis Bre...

Casimir Trials is a contract research organization that is seeking to bring patient and caregiver perspective into the clinical trials process. It’s working with drug developers to create endpoints and measures that can provide rigorous and quantifiable means of demonstrating whether an experimental therapy provides meaningful improvements to a patient’s quality of life. We spoke to Christine McSh...

Idiopathic pulmonary fibrosis is a serious, life-limiting lung disease characterized by fibrosis and scarring of lung tissue. Patients generally live only about three to five years after a diagnosis. Approved therapies can slow down the progression of the disease, but no available therapies halt or reverse it. The only curative therapy is a lung transplant, an option that is available to only a sm...

Patients with rare diseases often have a complex constellation of symptoms that require the care of multiple specialists. Getting access to the needed mix of physicians and counselors can represent geographic and scheduling challenges for patients and caregivers and create difficulties in coordinating care between specialists. One approach to addressing these needs has been the development of cent...

Mitochondria are the powerhouses of the cell and play a central role in a number of rare diseases. Mitochondria have their own DNA and Minovia Therapeutics is seeking to develop cell therapies designed to repair damaged mitochondrial DNA using autologous stem cells that have been enriched with blood-derived mitochondria. We spoke to Natalie Yivgi Ohana, co-founder and CEO of Minovia, about the com...

Earlier this year Passage Bio announced its launch with $115.5 million in funding and a group of founders with a strong pedigree. The company’s founders include gene therapy pioneer James Wilson, pharmaceutical industry veteran Tachi Yamada, and former Alexion executive and OrbiMed Venture Partner Stephen Squinto. One point of distinction for the company is its unique partnership with the Universi...

AGTC is developing gene therapies to treat patients with rare inherited eye conditions. It has multiple programs it is advancing to restore visual function in patients with diseases that threaten to leave them blind. One issue that has emerged, though, is finding the right measures and endpoint for its clinical studies and getting the U.S. Food and Drug Administration to recognize the traditional...

Avidity Biosciences is pioneering antibody oligonucleotide, a new class of therapeutics that marry the target selectivity of monoclonal antibodies with the precision of genetic medicine. The company is focusing on treatments for rare muscle disorders including myotonic dystrophy type 1 and Duchenne muscular dystrophy. We spoke to Art Levin, executive vice president of research and development at A...

Global Genes Rare University is rolling out a new online course aimed at helping rare disease patients and families understand the world of genetics. The course, which is free, starts with the basic genetic concepts for rare disease, and them moves to family and heredity, genetic testing, and scientific advances. We spoke to Holly Snyder, a lead editor on the Rare University genetics course and se...

For rare disease patient groups seeking to drive research toward the development of therapies, many obstacles exist. By setting an overarching research agenda, driving collaborations among researchers, and sharing what is learned, patient groups are getting the most out of limited budgets and accelerating the time it takes to develop new treatments. The newly announced Rare As One Project from the...

Wendy Chung and her lab have proven a talent for identifying new rare diseases. She and her team have discovered more than 44 genetic conditions to date. But Chung, a professor of pediatrics and medicine at Columbia University and New York-Presbyterian Hospital, and director of the clinical genetics program at Columbia University, is driving beyond discovery to help patients find therapeutic alter...

The emotional impact a rare disease can have on siblings of children with these conditions can be significant. A sibling voices survey evaluating the psychological effects of growing up with a sibling with severe epileptic encephalopathies presented at the European Congress on Epileptology last year suggests these children may be as risk for anxiety or depression. We spoke to Lauren Schwartz, a ps...

Early diagnosis and intervention can improve outcomes for children with autism spectrum disorder but arriving at a diagnosis can be difficult at an early age. To diagnose the condition, doctors have relied on behavioral tests and the average age of diagnosis in the United States is more than 4 years. NeuroPointDX has developed a diagnostic test that looks at metabolic imbalances in the blood that...

Natural history studies track the course of a disease over time, helping researchers understand the different ways a condition may manifest itself and progress. These studies can also provide insight into whether patient populations should be divided into subtypes for more targeted therapeutic approaches. Such data often represents a foundational understanding of a disease that can play an essenti...

When Lara Pullen’s son was diagnosed with Prader-Willi syndrome, she began to dive into the scientific literature about the rare condition. Pullen, a scientist and co-founder of the Chion Foundation, discovered that pitolisant, a recently approved drug for narcolepsy, might benefit patients with Prader-Willi. Working with her Chion co-founder Maria Picone, who developed an online data-gathering pl...

One reason for the extended diagnostic odyssey that rare disease patients face is that doctors are often unfamiliar with the rare conditions they may have. In addition, doctors are trained to think of the likeliest explanation for a patient’s symptoms, which may be similar to those of more common diseases. London-based Mendelian is working to bring machine learning to the rare disease diagnostic p...

Children awaiting adoption with a rare disease may go untreated or receive minimal treatment. If they go unplaced, they may face life in a long-term care facility, or nursing home. Gift of Adoption is a nonprofit that provides adoption assistance grants to help vulnerable children find a permanent home and the chance to thrive. We spoke to Pam Devereux, CEO of Gift of Adoption, about the cost of a...

April 29 is Undiagnosed Rare Disease Day. It is a day when advocates raise awareness among the general public and policy makers about the emotional, physical, and financial impact living with an undiagnosed rare disease has on patients and their families. Ahead of this year’s Undiagnosed Rare Disease Day we spoke with Ava Szajnuk, an 11-year-old undiagnosed rare disease patient and advocate, about...

The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive the collection of data. Its goal is to make the registry the largest collection of information about the neurological disorder to date and use it to inform the research for new therapies by providing insights into the developmental...

Rett syndrome is a genetic disorder that mostly affect girls and is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. A study recently published in the journal Neurology reports encouraging results from a mid-stage clinical trial for an experimental therapy to treat the condition. The patient organization Rettsyndrome.org played a key role in identifying the potent...

Sickle cell disease is the most common inherited blood disorder in the United States. People with the condition have sickle-shaped red blood cells and these misshaped cells can block the flow of blood and oxygen to organs throughout the body. These blockages can cause severe pain, organ damage, and strokes. While the disease is well understood, treatment options today are limited and obtaining pro...

A number of rare, genetic diseases including Huntington’s disease and myotonic dystrophy belong to a group of conditions known as repeat expansion disorders. Though it's normal to have pieces of repeating genetic code, these diseases involve an abnormally high number of repeats that result in the production of toxic proteins. NeuBase Therapeutics is using its platform technology to produce antisen...

Transthyretin is a protein found in the blood. Its name reflects its function, which is to transport thyroxine and retinol. In the case of a number of rare conditions, the protein becomes unstable and misfold, causing it to accumulate as toxic protein deposits in the heart or peripheral nerves. Eidos Therapeutics, a subsidiary of BridgeBio, is developing an experimental small molecule drug that bi...

The complement system, part of the immune system, has long been used as a target for interventions in certain rare disease. Apellis Pharmaceuticals is developing therapies to treat rare blood and kidney diseases, but by targeting a different part of the complement system than available therapies do today. We spoke to Cedric Francois, co-founder, president and CEO of Apellis, about the complement s...

One of the challenges rare disease advocates face in advancing research and treatments is finding the patients needed to understand the natural history of a disease and participate in clinical trials. That’s true for cavernous angioma, a formation of abnormal blood vessels in the brain and spinal cord with leaky walls that can cause seizures, stroke symptoms, hemorrhages, and headaches. The Angiom...