Accelerating Rare Disease Drug Development: Lessons Learned from Muscular Dystrophy Patient Advocacy Groups.

With scientific and molecular advancements related to disease pathogenesis, advances in gene and stem cell therapies, and the promise of lucrative markets for biopharmaceutical companies, there has been a rapid expansion in the number of potential new muscular dystrophy (MD) treatments. The first champion for a newly diagnosed MD patient and their caregivers is typically an MD-specific patient advocacy group (PAG). Muscular dystrophy PAGs have been among the most active in the rare disease drug development space. Notable achievements in the last decade include promulgating the first U.S. clinical research guidance, setting up registries and natural history studies, and investing in companies-some of which have brought potentially disease-modifying products to the market. This paper will discuss five key strategies that have been successfully employed by MD PAGs to advance treatments: (1) creating a national registry, (2) understanding the barriers to identifying patients with certain subtypes of muscular dystrophy to participate in clinical trials, (3) partnering with the biopharmaceutical industry, (4) collaborating with the regulators, and (5) incorporating market access and use insights early in clinical development. While clearly helpful within the MD community, these tactics could also be employed by PAGs representing other types of rare diseases.

Clinical trials assessing ototopical agents in the treatment of pain associated with acute otitis media in children.

Otalgia (ear pain) is one of the characteristic symptoms and best predictor of acute otitis media (AOM) in children. Although oral pain medications are the current mainstay for the treatment of AOM-associated otalgia, ototopical agents have been investigated as an alternative treatment strategy. To permit review and assessment of this treatment modality, a systematic literature search was conducted to identify all randomized, controlled trials of ototopical agents. Four trials were identified, including those examining ototopical benzocaine in combination with antipyrine, lidocaine, tetracaine, and herbal extracts. Although the current available evidence suggests ototopical agents may be safe and effective, we conclude that further studies with more rigorous methodology are needed to conclusively demonstrate their utility in this setting.