Parent Project Muscular Dystrophy (PPMD), a patient advocacy organization fighting to end Duchenne muscular dystrophy, has proposed a collaboration with the FDA to initiate a rare disease benefit/risk pilot program using Duchenne as the initial therapeutic area.

PPMD issued a paper, Benefit-Risk Assessments in Rare Disorders: The Case for Therapeutic Development in Duchenne Muscular Dystrophy as the Prototype for New Approaches, which explores the benefit/risk paradigms used in both the U.S. and Europe, including patient survey data from a recent PPMD study, and offers recommendations for ways to modify these frameworks to accommodate the unique needs of rare disease communities.

"A robust and functioning system to evaluate and consider the benefits and risks of a potential therapy is critical to the process of reviewing and approving novel therapies," said Pat Furlong, parent project muscular dystrophy founding president and CEO. "It is absolutely essential that reviewers and regulators fully understand the perspective of the patients and parents impacted by such decisions. We also aspire to understand from regulators how to better provide such patient perspectives for their considerations."

While the evaluation of a product's potential benefits and risks is similar whether the product is intended to treat a highly prevalent and well-understood condition or a rare disease, the nature of rare diseases necessitates that special considerations be made.

For example, rare diseases are often not as well-characterized because they lack large patient populations studied over long periods of time, and many rare diseases do not have any approved therapies or means of prevention to serve as points of reference. To compensate for these deficiencies, regulators and other stakeholders must embrace modified assessment frameworks that protect patient safety while at the same time supporting innovation and efforts to develop life-enhancing and life-saving medications.

"Duchenne offers the FDA the ideal candidate for a rare disease benefit/risk pilot program. While Duchenne is a rare and fatal disease with no approved treatments, the disease progression is steadily becoming better understood and a number of potential therapies are in various stages of the development and clinical trial process," said Furlong. "As FDA prepares to receive these Duchenne drug applications, a Duchenne benefit/risk pilot and complementary research and development initiatives with government, industry and academia are vital to our success. PPMD is committed to creating the unique tools and delivering the strategic advocacy that only the patient community can provide to this vital work."

PPMD recently completed the first-ever rigorous scientific survey of benefit/risk expectations of nearly 120 Duchenne parents/guardians, producing a unique data resource to help power the proposed pilot. Data from the study illustrates a relatively high level of risk tolerance if the potential benefit is slowing or stopping the progression of muscle weakness. The preliminary survey data was presented to FDA leadership in a meeting in July, and PPMD continues to work with the agency to apply this approach to new knowledge.

"Our survey and now this paper are very much in line with FDA's patient-focused drug development initiative. Undertaking a rare disease benefit/risk assessment pilot program with Duchenne as the initial focus will help achieve continued progress in our fight to end Duchenne and provide a framework and foundation upon which similar rare disease benefit/risk programs can be built," Furlong said.