RARECast

Developing therapeutics for rare diseases can be challenging, and not just because of the small patient populations. Often the progression of a disease is not well understood, the patient population can be heterogenous, and the development of objective and meaningful endpoints for a trial can be difficult. We spoke to Ralf Rosskamp, chief medical officer of Dicerna, about how his company has navig...

Nearly a year ago, more than 400 members of spinal muscular atrophy community along with industry, clinicians, and researchers convened a patient-focused drug development meeting with the U.S. Food and Drug Administration to give voice to patient views on the impact the rare condition has on their lives and their priorities for treatments. CureSMA, which organized the event, recently issued its Vo...

Makayla Allison’s daughter Lily was born with a rare genetic disease with many symptoms, complex challenges, and no diagnosis. As she grew older, one of the things she told her mother she wanted was to have friends like her, ones with the same health issues. That led Allison to create Someone 1 Like You, an online service that connects people with rare diseases with others with the same conditions...

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Though people with the disease can look long and lean and ideal for certain sports, strenuous activity can be dangerous because the disease can cause enlargement of the aorta and lead to sudden death under extreme exertion. For Marfan Syndrome Awareness Month we spoke to Alan Braverman, professor of medicine at Washin...

Rare disease centers at academic institutions are usually places that focus on early-stage research of faculty members, but the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine takes a multidimensional approach to address the needs or the rare disease community. In addition to conducting its own research, the center collaborates with both pharmaceutical compani...

World Rare Disease Day is marked on the last day of February by rare disease patient advocates across the globe as a way to raise awareness. This year, the focus of the day will be on research. In recognition of that, we spoke to Anne Pariser, deputy director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences. Pariser discussed the changing role of...

The Boler-Parseghian Center for Rare and Neglected Diseases at Notre Dame University conducts both basic and translational research. It also provides undergraduate students interested in going on to medical school or biomedical research, exposure to rare disease patients and the issues they face. We spoke to Kasturi Haldar, director of the center, about its work, the scientific case for linking ra...

A range of RNAi therapies are moving through clinical development and toward the market providing the promise of new ways to treat genetic diseases. Dicerna, which has a platform that allows for a unique delivery mechanism for targeting the liver with RNAi therapies, recently began dosing patients in an early-stage trial of its experimental RNAi therapy to treat hyperoxaluria, a rare genetic liver...

Repurposing, finding new uses for already approved drugs, has long been viewed as a way bring needed therapies to rare disease patients that’s fast and cost-effective. Pharnext is putting a new twist on repurposing by using genomic data and network pharmacology to identify thousands of molecules that may be involved in a disease and finding synergistic combinations of available therapies to treat...

uniQure achieved a milestone when it won approval in Europe for Glybera, the first gene therapy approved in the Western World, but it later pulled it from the market because it wasn’t commercially viable. Now, it is advancing a gene therapy for the rare genetic clotting disorder hemophilia B through development. We spoke to Steve Zelenkofske, chief medical officer at uniQure, about what the compan...

PAP and NTM are two rare lung conditions with different pathologies. PAP is an autoimmune condition while NTM is caused by a bacterial infection. Savara Pharmaceuticals is developing an inhaled therapeutic it thinks can treat each of these two different conditions. We spoke to Rob Neville, co-founder and CEO of Savara, about the company, its lead therapeutic Molgradex, and what a recent grant from...

The microbiome has become an area of great interest among drug developers as a way to treat diseases. Synlogic, which is developing a new class of therapies it dubs Synthetic Biotics, thinks it may offer novel ways to address a variety of rare diseases. We spoke to Andrew Gengos, chief operating officer and head of corporate development for Synlogic about its platform technology, a recent alliance...

Earlier this month the U.S. Food and Drug Administration issued a draft guidance intended to help cut the cost and development time of rare disease therapies. The guidance focused on the potential to use multi-arm, multi-company trials to reduce the total number of patients needed to evaluate experimental therapeutics targeting the same indication. We spoke to James Valentine, associate with the l...

Despite growing acceptance that patients have the clearest view of the health outcomes that matter, drugs to treat rare diseases often live or die on outcome measures that may fail to reflect their benefits to patients. As a result, regulatory approval and reimbursement decisions may made in the absence of measures of meaningful health outcomes for patients. We spoke to Thomas Morel, a research fe...

Earlier this month, the U.S. Food and Drug Administration announced a comprehensive policy framework for the development and oversight of regenerative medicine products. The framework spells out how the FDA intends to review new products and protect patient safety in this emerging area that FDA Commissioner Scott Gottlieb called “dynamic and complex” with “unique challenges.” We spoke to Michael W...

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...