Rarecast

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 patients in research, efforts to accelerate translational science, and what her office will be doing on World Rare Disease Day.

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 rare and neglected diseases, and its upcoming Rare and Neglected Disease Day Conference.

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 disease. We spoke to Doug Fambrough, president and CEO of Dicerna, about the company’s GalXC platform, what makes it unique, and what’s ahead in its pipeline.

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 it. We spoke to Daniel Cohen, CEO of Pharnext, about its so-called Pleotherapy, how it goes about finding and formulating combinations of drugs, and why this may hold greater promise than traditional repurposing approaches.

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 company has learned from its experience with Glybera, what the data from its hemophilia B gene therapy has shown, and how its expecting to alter that therapy to make a more effective version that may provide an even greater response.

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 Cystic Fibrosis Foundation will mean to advancing another candidate in its pipeline.

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 that may speed the discovery of new therapeutics for the company, and why the microbiome may be a way to address a variety of genetic diseases.

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 law firm Hyman, Phelps & McNamara, about the draft guidance, how broadly applicable it might be, and what it says about the direction of the FDA in terms of addressing issues of concern to the rare disease community.

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 fellow at KU Leuven in Belgium and co-author of an article in the November issue of the Orphanet Journal of Rare Diseases, about the particular challenges of rare disease clinical trials, the importance of patient-centered outcome measures for them, and what it will take to develop and use such measures for rare disease clinical studies.

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 Werner, executive director of the Alliance for Regenerative Medicine, about the framework, whether it provides the clarity industry sought, and what it will mean for patients hoping to see safe and effective regenerative therapies reach them as quickly as possible.

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 services, recently issued final modifications to its framework for assessing the value of treatments for serious, ultra-rare diseases. The framework applies to therapies that are eligible to treat no more than 10,000 U.S. patients including certain treatments for inherited eye disease, hemophilia A, and cystic fibrosis. We spoke to Steven Pearson, president of ICER, about the framework, why modifications were needed for drugs to treat ultra-rare diseases, and what the implications are for a pipeline or therapies with the potential not just to treat, but to cure progressive and deadly rare diseases.

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 spoke to Perlstein about his experience, what he learned in the process, and his practical advice for entrepreneurs seeking funding.

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 Canada, who view the move as a response to provincial governments who feared an orphan drug designation would be a license to charge high prices for medications. We spoke Durhane Wong-Rieger, president and CEO of The Canadian Organization for Rare Disorders, about the Health Canada’s unexpected decision, why an orphan drug framework is seen as critical to making needed therapies available in Canada, and what it means for the rare patient community there.

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 Vtesse, which is developing drug for Niemann-Pick Disease Type C, has already been acquired. Its second company, Imara, is developing a treatment for sickle cell disease. We spoke to Chris Adams, CEO of Cydan, about its business model, how it differs from other similar approaches, and whether it provides a faster and cheaper way to get therapies to market.

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 determine whether there are common issues they share that may warrant policy changes. We spoke to Grace Whiting, Interim CEO and Chief Operating Officer of the National Alliance for Caregiving, about the study, what the organizations are hoping to determine, and how the findings will be used.

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, cell migration, tissue remodeling, angiogenesis and embryogenesis. We spoke to Pierre Laurin, president and CEO of Prometic, about Ryplazim, the challenges and benefits of deriving products from human plasma, and what else is moving through the company’s pipeline.

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 13 she founded Claire’s Place Foundation to provide support to CF patients and their families. She’s also touched many others with her YouTube videos and public talks where she speaks about her illness and dying, with charm, humor, and a life-affirming wisdom. We spoke to Wineland, a 2017 Global Genes’ Champion of Hope awardee, about her life with cystic fibrosis, what its taught her about living, and how finding a greater purpose than treating her own illness transformed her life.

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 multiple enzymes. It also includes significant central nervous system involvement that makes delivery of therapies that much more challenging. We spoke to Olsen about MSD, the United MSD Foundation she founded to drive research toward treatments, and how she enlisted one researcher to pursue a potential gene therapy.

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 organizers of the event, about the film festival, his own search for answers about his daughter’s ultrarare condition, and why this festival is about more than just the films themselves.

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 changing view of employers toward work-at-home employees, and the growing opportunities for jobseekers with a chronic illness.