Medical Curiosities: Navigating the Highs and Lows of Rare Disease Drug Development
Once considered medical curiosities, rare diseases are now recognized for their significant impact on public health. There are 10,000 known rare diseases affecting over 300 million people worldwide, and yet just 5% of these diseases have an approved treatment.
The Orphan Drug Act was passed in 1983 to incentivize the development of drugs for rare diseases, giving the FDA the power to streamline the regulatory process and provide incentives for companies to develop treatments for these conditions. Despite this, the inherent nature of rare diseases, smaller patient populations, and less funding make the research and development process a balancing act of challenge and opportunity.
Custom Clinical Roadmaps
Rare diseases, defined as conditions that affect fewer than 200,000 people, are uniquely difficult to research and develop treatments for. They may have complex symptoms, or be so rare that medical professionals have little understanding of the mechanism of disease. In designing clinical trials to test potential new therapeutics, a roadmap must be created each time, since previously established endpoints and defined clinical measures simply don’t exist.
Limited patient populations mean that drug developers must work closely with foundations and patient advocacy groups to recruit enough patients to demonstrate a treatment’s safety and efficacy. Prohibitive development costs are a significant barrier to rare disease drug development, due to small patient populations and the marketing potential of the finished product in relation to the high cost of R&D and clinical trials.
Rare disease parent and CEO of Elpida Therapeutics, Terry Pirovolakis, told BioSpace, “To drive progress in treating these diseases, essential support from governments, philanthropists and the biotech investment community is urgently needed.”
This week, as Rare Disease Day brings many virtually unknown conditions to light, we have featured five emerging companies working to deliver life changing treatments for those living with rare diseases.
Abeona Therapeutics (Nasdaq: ABEO) is a clinical-stage biopharmaceutical company developing cell and gene therapies for serious diseases. In November 2023, Abeona was granted Priority Review for its Biologics License Application (BLA) for pz-cel (prademagene zamikeracel), for the treatment of patients with recessive dystrophic epidermolysis bullosa (RDEB). RDEB is a severe rare disease characterized by extremely fragile, and extensive blistering and wounds. The company has received a Prescription Drug User Fee Act (PDUFA) target date of May 25, 2024.
Panbela Therapeutics (Nasdaq: PBLA) is a clinical-stage biopharmaceutical company developing disruptive therapeutics for urgent unmet medical needs. In April 2023, Panbela regained the worldwide rights to develop and commercialize Flynpovi, a potential treatment for familial adenomatous polyposis (FAP), a rare, inherited cancer. Cancer Prevention Pharmaceuticals, Inc. completed a FAP-310 Phase 3 trial studying the efficacy and safety of the combination of eflornithine and sulindac (Flynpovi), as compared with either drug alone, in adults with FAP. The study showed 100% risk reduction in the need for surgery in patients with an intact lower gastrointestinal anatomy.
Voyager Therapeutics (Nasdaq: VYGR) is a biotech company leveraging the power of human genetics to modify the course of neurological diseases. The company is targeting the rare disease, Friedreich’s Ataxia (FA), which affects certain nerves in the body and can result in difficulty walking, fatigue, changes in sensation, and slowed speech. This month Voyager selected a lead development candidate in its FA program, triggering a $5 million milestone payment, which the company expects to receive in the first quarter of 2024. Under the terms of Voyager’s 2019 collaboration agreement with Neurocrine Biosciences, Voyager is eligible to receive up to $1.3 billion in potential development and commercial milestone payments, tiered royalties on net sales, and program funding.
Capricor Therapeutics (Nasdaq: CAPR) is a biotechnology company dedicated to advancing transformative cell and exosome-based therapeutics to redefine the treatment landscape for rare diseases. This month, the company announced it had been granted an in-person Type-B meeting with the FDA to discuss chemistry, manufacturing and controls (CMC) plans for commercial launch for the potential launch of its treatment for Duchenne Muscular Dystrophy (DMD). DMD is a rare and severe form of inherited muscular dystrophies and leads to progressive muscle fiber degeneration and weakness. Capricor has been granted Regenerative Medicine Advanced Therapy (RMAT) and orphan drug designations for the use of drug candidate, CAP-1002, in DMD.
Soleno Therapeutics (Nasdaq: SLNO) is focused on the development and commercialization of novel therapeutics for the treatment of rare diseases. In September 2023, the company announced positive topline results from a long term treatment study evaluating DCCR (Diazoxide Choline) extended-release tablets for the treatment of the rare disease, Prader-Willi syndrome (PWS). The company’s shares rose more than 500% following the news.Soleno has been granted FDA and EU Orphan Drug designation for DCCR in the treatment of PWS and FDA Fast Track Designation.
