RARECast

The pricing of drugs is characterized by a tension between providing incentives to drug companies to invest in the development of innovative therapies and ensuring affordability so patients have access to needed medicines. The Institute for Clinical and Economic Review, an independent non-profit research institute that analyzes the evidence on the effectiveness and value of drugs and other medical...

Stories abound about plucky entrepreneurs financing their startups, but it’s unusual to get trench-view insights from founders who have slogged their way through endless pitches along Sand Hill Road. Ethan Perlstein, founder and CEO of the rare disease drug discovery company Perlara, shared what he gleaned from his recent $7.4 million equity round for his company in a piece on the CNBC website. We...

Health Canada has derailed a long-fought effort to establish a framework for orphan drugs. Last month the agency, without warning, removed from its website all documents relating to the effort. The agency says its conducting a broader review of regulations and will now seek to address the aims of the orphan drug framework through other means. The decision is a blow to rare disease advocates in Can...

Cydan, an orphan drug accelerator focused on developing therapies for rare genetic diseases, recently completed a $34 million financing round. With a core team that seeks to in-license promising experimental therapies, Cydan conducts preclinical development in-house and then, should circumstances warrant, spins out a company to conduct clinical development of promising assets. It’s first company V...

Rare disease caregivers are good at advocating for their family members, for research, and for the needs of rare disease patients broadly. What they often fail to do, though, is advocate for themselves. The National Alliance for Caregiving, in partnership with Global Genes, is conducting a first-of-its-kind study of rare disease caregivers to better understand the challenges they face and determin...

Prometic Life Sciences is developing both plasma-derived and small molecule therapeutics to address a number of rare diseases that are today without therapies. Its lead experimental therapeutic is Ryplazim, which is purified human plasminogen that is being developed to treat congenital plasminogen deficiency. Plasminogen is a naturally occurring protein that plays a critical role in wound healing,...

Claire Wineland has defied the odds. At 20, she’s lived more than twice as long as doctors told her parents she would. Born with cystic fibrosis, Wineland has spent about a quarter of her life in hospitals, and her daily health regimen is a demanding routine of treatments, medications, and oxygen. Despite her health problems, though, she has learned to find purpose by helping others. At the age of...

When Amber Olsen’s daughter Willow was diagnosed in 2016 with an ultra-rare lysosomal storage disorder known as multiple sulfatase deficiency, the diagnosis was grim. There is no treatment for the disease and most children with the condition don’t live past the age of 10. Unlike other lysosomal storage disorders that have been treated with enzyme replacement therapies, MSD involves a lack of multi...

Disorder: The Rare Disease Film Festival will debut in Boston October 2 and 3 featuring a range of more than 30 films focused on topics of rare disease. The event will also include talks from filmmakers, patient advocates, and researchers as the organizers not only hopes to raise awareness about rare diseases, but also begin conversations and forge connections. We spoke to Bo Bigelow, one of the o...

People with a chronic illness may be able to work, but commuting to a 9-to-5 job in an office might not be ideal. Chronically Employed (http://chronicallyemployed.com/) is a new website that offers job listings, career advice, and stories for people who continue in their careers after a diagnosis. We spoke to Ilana Jacqueline, editor-in-chief of Chronically Employed, about the new site, the changi...

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...