RARECast

Partnering is essential to advancing rare disease therapies, but while researchers, drugmakers, and patient groups share a common desire to bring new treatments to market, differences in how they operate, their culture, and priorities can derail progress. We spoke to Karen Erickson, associate executive director of community engagement at the Alpha-1 Foundation, about the elements of successful par...

Art Pappas, a former pharmaceutical executive turned venture capitalist, has spent more than 30 years working for and investing in drug companies. Among the areas he focuses on are rare disease drug developers. We spoke to Pappas about the changing climate for investment in rare disease companies, his thought process in evaluating potential investments, and at what point he considers exit strategi...

Patient organizations have long been working with biopharmaceutical companies, but as they have grown more sophisticated about their interactions, they are coming to understand the value in laying out the ground rules for these relationships. Last year, the International Fibrodysplasia Ossificans Progressiva Association, or IFOPA, took the unusual step to craft a set of guidelines for the organiza...

To bring new therapies to market to treat rare diseases requires more than scientific innovation. Innovation in financing and business models can be critical as well as the need to find ways to cost effectively develop new medicines becomes increasingly important. We spoke to Neil Kumar, CEO of BridgeBio, about his company’s strategy for developing a portfolio of rare disease therapeutics, why the...

A group of twentysomethings backpacking their way through Europe may not sound unusual, but for Kevan Chandler and his friends, their trip in 2016 was by no means a typical backpacking adventure. Chandler, born with the rare neuromuscular condition spinal muscular atrophy, has been wheelchair bound for most of his life. Because the planned trip included several places that were not wheelchair acce...

Simon Wheatcroft lost his ability to see at the age of 17, the result of a rare genetic disorder. After becoming blind, though, Wheatcroft developed a penchant for running. Starting on a soccer field where he ran between goal posts, he graduated to public roadways. Since those early outings where he had sometime painful encounters road signs and other obstacles, Wheatcroft has learned to adapt, us...

Last month, Spark Therapeutics submitted its gene therapy Luxturna, an experimental treatment for a rare inherited disease that causes blindness, to regulators in the United States and Europe. The company also won U.S. Food and Drug Administration designation for the experimental therapy as a treatment for a rare pediatric disease. Luxturna could be the first treatment for inherited retinal diseas...

Fulcrum Therapeutics is working to develop small molecule drugs to modulate gene activity as a way to treat certain rare diseases. The company, established by the venture capital firm Third Rock Ventures, is initially focusing on Fragile X and a form of muscular dystrophy known as FSHD. We spoke to Walt Kowtoniuk, director of strategy and operations for Fulcrum, about its approach, what he learned...

When BioMarin failed to win U.S. Food and Drug Administration approval for its experimental Duchenne muscular dystrophy drug drisapersen, it decided to its cease development. Though there were concerns about both the safety and efficacy of the drug, there were patients who participated in the clinical trials who felt that they benefitted from it. CureDuchenne established CD Access, a new nonprofit...

The diagnostic odyssey rare disease patient face can be long and daunting. Centogene is trying to help these patients find answer more quickly through its genetic diagnostics. The company has been focused on getting beyond the noise generated by the rapid increase in the volume of data to get accurate understanding of a patient’s genetics and helping doctors obtain actionable information. Strength...

PFIC is a rare genetic disorder that causes progressive, life-threatening liver disease. In many cases, PFIC leads to cirrhosis and liver failure within the first 10 years of life. Albireo, a 2008 spin-out of AstraZeneca, is developing bile acid modulators to treat PFIC and other rare pediatric liver diseases and gastrointestinal disorders. We spoke to Ron Cooper, CEO of Albireo, about PFIC, the c...

aTyr Pharma is exploring a new set of naturally occurring proteins within the body dubbed physiocrines that modulate biologic activity and may provide therapeutic benefit. The company is pursuing this new class of molecules to treat a number of rare diseases. The company’s lead drug candidate Resolaris is being developed to treat FSHD, a rare genetic myopathy in which immune cells invade diseased...

Duchenne Muscular Dystrophy, a rare genetic disease, causes progressive muscle wasting that slowly robs people of abilities and leads to death. In recent years, much attention has focused on the use of antisense oligonucleotides to bypass defective portions of the exon that codes for the dystrophin gene to restore its production. Dystrophin is a protein that is essential to healthy muscle. Summit...

Enzyme replacement therapies are available for a number rare, metabolic diseases that collectively are known as lysosomal storage disorders. These therapies have brought great benefits to patients. One problem, though, is that the enzymes don’t cross the blood-brain barrier and don’t address the severe and progressive neurological complications caused by many of these diseases. ArmaGen thinks it h...

The promise of gene editing and gene therapy has rare disease patients not only contemplating the potential of new treatments, but ones that can free them from chronic therapies and potentially provide cures. Sangamo Therapeutics, long pursuing its proprietary gene editing technology, is suddenly moving into the clinic with four experimental therapies including a a gene therapy for hemophilia A, a...

Clinical trials for rare disease therapies face many challenges due to the small patient population on which they draw, the fact that often there may be many unanswered questions about a specific disease, and the potential variation in the way a rare disease manifests itself in patients. We spoke to John Boland, vice president of product development for the Atlantic Research Group, about the contr...

For many rare disease patients, the drug discovery and development process moves slower than the diseases they are battling. Earlier this month, representatives of the patient community joined with academic researchers and drug developers at the Charles River Rare Disease Symposium in Cambridge, Massachusetts to explore way to accelerate the process of drug discovery and move more quickly toward h...

Last month the U.S. Food and Drug Administration granted Enzyvant both Breakthrough Therapy Designation and the newly established Regenerative Medicine Advanced Therapy Designation for its investigational cell therapy to treat complete DiGeorge Syndrome, a rare and fatal disease. Enzyvant is the first company to win both designations and only the second to win the Regenerative Medicine Advanced Th...

There is increasing recognition of the important role patients can play by providing their insights into the drug discovery and development process. The Penn Medicine Orphan Disease Center and Global Genes will be hosting the second annual Rare Patient Advocacy Symposium in Philadelphia May 19, at the Sheraton University City Hotel, a day-long exploration of how rare disease patients can better ge...

Porphyria is a rare and intensely painful blood disease. Because it can manifest itself with symptoms similar to those caused by far more common disorders, it can be difficult to diagnose. Colin McEwen went through an 18-year diagnostic odyssey, in part because injuries he suffered as a child from an auto accident obscured from doctors the actual cause of his maladies. His problems were made that...

Diagnosing a rare disease can take years. When it’s a disease that’s never been identified before, the search for a diagnosis can be that much more difficult. Daryl Scott, associate professor of molecular and human genetics at Baylor College of Medicine, and colleagues diagnosed four patients on two continents with a never before identified rare disease in a day. The feat is recounted in a recent...

Researchers at UCLA have developed a stem cell gene therapy treatment for children born with the rare, life-threatening condition ADA-deficient SCID, often referred to as Bubble Baby disease. Children born with this condition are without a functioning immune system and are kept in controlled and isolated environments because exposure to common illnesses or infections can be lethal. We spoke to the...

Legislation that would provide incentives to drugmakers to repurpose existing pharmaceuticals as rare disease treatments is once again in the works. Known as The OPEN ACT (Orphan Product Extensions Now, Accelerating Cures and Treatments), proponents say it would help address a gap in the drug development landscape. At one point, the bill had been folded into the 21st Century Cures Act, but had bee...

The high cost of drug development and the small populations for individual rare diseases can make it difficult to attract drug companies to make the investment of time, money, and resources necessary to bring a rare disease drug to market. American MedChem, a non-profit drug company, is hoping to bridge a gap between the lab and the clinic, by using its small molecule expertise to advance potentia...

Rare disease advocates, because of their diseases’ small population of patients, can find it challenging to muster the interest of researchers and drug developers to invest the money, time, and energy needed to discover and develop a therapeutic. One solution is to drive collaborations to leverage the limited resources of foundations and researchers and advance their efforts to a point where drug...