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 platfo...
Jan 17, 2018•21 min
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 fi...
Jan 10, 2018•23 min
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...
Jan 03, 2018•29 min
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.
Dec 27, 2017•22 min
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 w...
Dec 20, 2017•21 min
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, ...
Dec 13, 2017•20 min
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 Journ...
Dec 06, 2017•20 min
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...
Nov 29, 2017•27 min
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 treatment...
Nov 22, 2017•25 min
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 f...
Nov 15, 2017•20 min
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...
Nov 08, 2017•20 min
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 seco...
Nov 01, 2017•23 min
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 Whit...
Oct 25, 2017•18 min
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, presi...
Oct 18, 2017•18 min
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’...
Oct 11, 2017•40 min
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 ...
Oct 04, 2017•20 min
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 ult...
Sep 27, 2017•21 min
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 wit...
Sep 20, 2017•16 min
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 partnering, how to align the differing interests of the participants, and how to get everyone to work t...
Sep 13, 2017•23 min
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 strategies.
Sep 06, 2017•17 min
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 organization regarding how it engages with the pharmaceutical industry. It made these guidelines public and ...
Aug 30, 2017•17 min
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 company’s not alone in this effort, and what he’s learned so far through this approach.
Aug 23, 2017•23 min
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 accessible, the friends decided to rig a backpack to carry Chandler and leave the wheelchair at home. We...
Aug 16, 2017•19 min
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, use technology and his other senses, and become an ultramarathoner. We spoke to Wheatcroft about the l...
Aug 09, 2017•23 min
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 disease and the first gene therapy for a genetic disease approved in the United States. We spoke to Paulo ...
Aug 02, 2017•18 min
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 working in a venture capital firm, and what advice he would offer rare disease patients turned inve...
Jul 26, 2017•16 min
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 that negotiated a novel agreement with BioMarin to get control of the existing supply of drisaperse...
Jul 19, 2017•18 min
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. Strengthened with a recent $28 million financing, the company is expanding its presence in the United States...
Jul 12, 2017•21 min
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 challenge of developing a therapy for a disease with multiple forms and causes, and the path forward ...
Jul 05, 2017•19 min
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 skeletal muscle and cause muscles to grow weak and deteriorate. We spoke to John Mendlein, CEO of At...
Jun 28, 2017•17 min
