Rarecast

In December, Castle Creek Pharmaceutical Holdings completed its acquisition of Fibrocell. The deal brought together two companies developing therapies for rare skin disorders. We spoke to John Maslowski, CEO of the combined company, about its late-stage gene therapy in development for recessive dystrophic epidermolysis bullosa, how it differs from what is conventionally thought of as gene therapy, and what the acquisition does to advance the pipeline of the two companies.

ALS is a progressive neurodegenerative disease. As motor neurons die, people with the condition grow weaker and lose motor function. For most, death occurs within three to five years of diagnosis. Brainstorm Cell Therapeutics is conducting a phase 3 clinical trial of its autologous stem cell therapy that programs cells taken from patients to produce neuro-protective factors that promote the survival of neurons. We spoke to Ralph Kern, chief operating officer and chief medical officer of Brainstorm Cell Therapeutics, about ALS, the company’s late-stage experimental therapy, and how its approach may provide benefits for patients with other neurodegenerative disease.

Earlier this month, Origin Biosciences initiated a rolling submission with the U.S. Food and Drug Administration for approval to market an experimental therapy to treat the ultra-rare metabolic condition molybdenum cofactor deficiency (MoCD) Type A. The condition manifests itself shortly after birth and leads to difficulty feeding and intractable seizures. Children with the condition have a median survival of three years and those who live longer suffer irreversible damage to their central nervous system. The rolling submission comes about a year and a half after BridgeBio acquired the therapy from Alexion Pharmaceuticals and formed Origin Biosciences to develop it. We spoke to Neil Kirby, CEO of Origin, about MoCD, how its synthetic enzyme co-factor works to treat it, and the plans for Origin beyond the submission for approval.

There is no clear agreement as to what constitutes a rare disease, the actual number of rare diseases, and how individual rare diseases are defined. The lack of clarity on the matter is not just an academic issue. The consequences of this, say researchers, is that it slows the diagnostic process and impedes the development of needed therapies for these conditions. In a recent commentary in the journal Nature Reviews Drug Discovery, Melissa Haendel and her co-authors discuss their efforts to characterize, define, and harmonize the definitions of rare disease through the Monarch Disease Ontology initiative. We spoke to Haendel, associate professor of medical informatics and clinical epidemiology at the Oregon Clinical and Translational Research Institute, about the problem with the different way organizations characterize and define rare diseases, the challenges of aligning these definitions, and why harmonization is critical for making progress in diagnosing and treating these conditions.

Drug developers and regulators are rapidly expanding the use of real-world evidence to develop rare disease therapies, but a new report finds payers are far less enthusiastic about incorporating such data in evaluating the value of therapies. The report from Syneos Health found payers have concerns about a lack of standards and have gaps in their understanding. We spoke to Meg Alexander, head of the reputation and risk management practice for Syneos Health, about the report, the important role real-world evidence can play in rare disease drug development, and why payers are moving slower than drug developers and regulators to embrace real-world evidence.

Rich Horgan was attending Harvard Business School when he started reaching out to leading researchers to learn about his brother Terry’s condition Duchenne muscular dystrophy and what could be done to accelerate efforts to find a cure. Horgan was taken with the work of Timothy Yu to develop a customized therapy for a young girl with a form of the rare neurological condition Batten disease and founded the nonprofit organization Cure Rare Disease to develop customized therapies to treat patients with rare, genetic conditions. We spoke to Horgan, founder and president of Cure Rare Disease, about the organization, his efforts to develop a treatment for his brother, and what it will take to scale the process to address the needs of a large group of patients with rare, genetic conditions.

Expanded access—a means of allowing people with serious and life-threatening conditions who fail to meet the enrollment criteria of a clinical trial to gain access to experimental therapies —has become an area of growing interest among the rare disease community. Though so-called right-to-try legislation has allowed patients to bypass regulators, it has done little to address the true obstacles patients face in getting access to these therapies. The Expanded Access Summit, which will be help January 27 to 29 at the National Press Club in Washington, D.C., will bring together regulators, drug developers, patients, and other stakeholders interested in expanded access. We spoke to Jess Rabourn, CEO of WideTrial and executive producer of the Expanded Access Summit (easummit.net), about the promise of expanded access, how it can be used to improve the clinical development of therapies, and how to address some of the remaining barriers to patient access of experimental therapies.

When Kyle Bryant was diagnosed with the rare neuromuscular disease Friedreich's ataxia, it upended his sense of himself and his future as he began to wrestle with feelings of anger and depression. His life changed, though, when he read about a man with multiple sclerosis and his use of a recumbent trike, an adult-sized tricycle with a reclined seat. Bryant was inspired and shortly planned a cross-country bike trip with his father to raise money for Friedreich's ataxia research, a journey he chronicled in his book “Shifting into High Gear.” We spoke to Bryant, director of Ride Ataxia at the Friedreich's ataxia Research Alliance and co-host of the Two Disabled Dudes podcast, about his bike journey, how it changed his relationship with his disease, and how it gave rise to his work as an advocate.

Keisha Greaves was studying for a career in fashion and business when she was diagnosed with limb-girdle muscular dystrophy, a rare and progressive neuromuscular condition. Rather than let her disease sidetrack her entrepreneurial vision, she has used it as a source of inspiration. She launched Girls Chronically Rock to produce T-shirts and adaptive clothing that celebrates and empowers people with chronic diseases. We spoke to Greaves about her experience with chronic illness, her vision for Girls Chronically Rock, and her efforts to bring adaptive wear to mainstream retailers.

Seth Rotberg and Kristina Wolfe have each felt the isolation of entering adulthood in the shadow of rare and chronic disease. Rotberg, whose mother was diagnosed with Huntington’s disease, had genetic testing as a college student that showed he too will develop the neurodegenerative condition. Wolfe has grown up with type 1 diabetes. The two founded Our Odyssey to help young adults connect, find social and emotional support, and help them improve their quality of life. We spoke to Rotberg and Wolfe about their own experiences, why they created Our Odyssey, and the unique psychosocial issues people with rare and chronic diseases face in transitioning to adulthood.

Cristol O'Loughlin grew up with three older brothers with the rare lysosomal storage disorder MPS II, or Hunter syndrome. The experience of seeing the demands on her mother led her to create Angel Aid Cares, an organization that seeks to support and connect caregivers, and help them learn to care for themselves while caring for others. We spoke to O’Loughlin about the challenges caregivers face, why they often neglect their own needs, and how her organization seeks to help them.

Disorder: The Rare Disease Film Festival features films from around the world that capture the challenges of life with a rare disease. Launched in Boston in 2017, the festival will be held in San Francisco November 9 and 10 at the UCSF Mission Bay Campus. We spoke to Bo Bigelow, co-founder of Disorder, about what’s showing at this year’s festival, the power of film to raise awareness about rare disease, and how the event is intended to foster connections between patients and researchers.

Last month, Deep Genomics garnered headlines when it declared that it had nominated the industry’s first artificial intelligence-discovered therapeutic candidate. The experimental therapy is intended to treat Wilson disease, a rare and potentially life-threatening condition. The target for the therapy was also identified by the company’s AI platform and Deep Genomics said it was able to identify the target and drug candidate in less than 18 months. We spoke to Brendan Frey, founder and CEO of Deep Genomics, about the company’s AI platform, why it is focused on genetic disease, and the case for the company’s approach to drug discovery.

Shane Burcaw and Hannah Aylward, known to YouTube viewers as Squirmy and Grubs, often find people have trouble comprehending their relationship. Burcaw, who is disabled as a result of spinal muscular atrophy, weighs just 65 pounds and has limited physical abilities. As the title of his latest book explains, “Strangers Assume My Girlfriend Is My Nurse.” We spoke to Burcaw and Aylward about their relationship, their encounters with others, and their efforts to shatter misconceptions about the ability for disabled people to have a love life.

Jeremy Levin’s high-profile success at building the pipeline at Bristol-Myers Squibb through deal-making and driving the company into immunotherapies, has given him the ability to take virtually any job he’d like in the biopharmaceutical sector. Given that, it may seem surprising the Big Pharma executive chose to become CEO of a development-stage company focused on rare neurological conditions. We spoke to Levin, CEO of Ovid Therapeutics, about why he took the job, the conditions the company is targeting, and whether his interest in rare diseases will shape the agenda of BIO now that he serves as chairman of the trade group.

Jennifer and Tracy VanHoutan lost two children in less than two years to CLN2 Batten disease, a rare, genetic, neurodegenerative condition that slowly robs children of their abilities before taking their lives. The VanHoutans founded Noah’s Hope to create awareness, raise money to fund research, and eliminate policy barriers to bringing therapies to patients. Despite their loss, they continue to advocate and push for treatments. At this year’s Global Genes Rare Patient Advocacy Summit in San Diego September 18 to 20, the two will be honored with a 2019 RARE Champion of Hope Award for their advocacy work. We spoke to the VanHoutans about CLN2 Batten disease, their advocacy work, and their ability to fight on after the loss they suffered.

When David Fajgenbaum was in medical school, he became stricken with a rare autoimmune disease that nearly killed him. Though he recovered, he would suffer recurring, life-threatening flares only to discover the poor state of research into condition. Fajgenbaum chronicles his rare disease journey and his efforts to drive research and find treatments in his new book “Chasing My Cure: A Doctor’s Race to Turn Hope into Action.” Fajgenbaum, who is executive director of the Castleman Disease Collaborative Network, will be featured at this year’s Global Genes Rare Patient Advocacy Summit, which begins in San Diego September 18. Ahead of the summit, we spoke to him about his experience as a rare disease patient, his efforts to find treatments for his conditions, and how his innovative approach to developing a patient-driven research agenda has provided a roadmap for other rare disease organization to follow suit.

Journalist and best-selling author Susannah Cahalan, ahead of her keynote address at the Global Genes’ RARE Patient Advocacy Summit September 18 in San Diego, discusses about her diagnostic odyssey, the critical role the support of her loved ones made, and what allowed the doctor who diagnosed and treated her to succeed where others had failed.

Nancy Patterson was diagnosed 32 years ago with Graves’ disease, a rare autoimmune condition that causes the thyroid to become overactive and can lead to a range of health complications. Patterson, a practicing mental health counselor, founded the Graves’ Disease and Thyroid Foundation, which she led for nearly 20 years. In her counseling role, she has worked with patients and families across the country and has been a proponent of the important role support groups can play in healing and educating people, particularly in a condition where patients are otherwise unlikely to meet others with the same disease. We spoke to Patterson about Graves’ disease, her own journey as a patient and advocate, and the benefits support groups can provide.

Epigenetics is the study of the regulatory system that controls how genes are turned on or off. In certain cancers, the proteins that regulate gene expression become dysregulated and incorrectly activate or deactivate genes, which can lead to cancer. Salarius Pharmaceuticals is targeting the epigenetic causes of cancer, including rare pediatric cancers. We spoke to David Arthur, CEO of Salarius about epigenetics, the rare cancer Ewing sarcoma, and company’s lead drug candidate to treat the condition.