Regulatory Advocacy

PPMD works to ensure that patient experience is central in product reviews. We convene families and other Duchenne advocacy organizations for regulatory events, including federal Advisory Committee meetings and summits, designed to inform regulators about the Duchenne patient experience.

Patient-Focused Drug Development

The Prescription Drug User Fee Act V (PDUFA V), also known as The FDA Safety & Innovation Act (or FDASIA), aligned perfectly with the dawning of a new day for our Duchenne community – one in which basic laboratory breakthroughs had developed into clinical trials, enabling the Duchenne pipeline of experimental therapies to become more robust than ever. We immediately embraced the opportunities presented to us through PDUFA V and have worked over the past few years to evolve the science of patient input and advance the field of Patient-Focused Drug Development.

Patient-Preferences Studies & Data Collection

PPMD conducted the first-ever scientifically rigorous preference study (download publication) of caregivers of Duchenne patients in 2012 to obtain quantitative evidence as to their views on benefit and risk of emerging therapies. Results revealed a willingness of caregivers to accept considerable risk and uncertainty for a therapy that stops or even slows the progression of Duchenne. These findings have been useful in both the regulatory and therapeutic access context based on community interest in accessing the first two approved drugs.

A second preference study of both caregiver and patients’ preferences for non-skeletal muscle benefits (download publication) elicited the high value placed on cardiac and pulmonary benefits, including an acceptance for risk and burden in order to achieve meaningful pulmonary outcomes such as a stronger cough and fewer lung infections. These findings provide insight into caregiver and patient priorities and preferences for treatments, and have value within both a regulatory and treatment access context. The study results also provide drug developers with data around symptom treatment priorities (download publication) not associated with skeletal muscle.

In 2018, we expanded our patient-preferences studies, including a global study of benefit-risk preferences and a study focused on risk tolerance in gene therapy interventions. Each of these studies represents collaborations with the patient, industry, academia, and federal agencies.

Patient-Preference Study Publications:

White Paper Publications

We have published a series of white papers analyzing PDUFA through the lens of the Duchenne community, including:

These publications highlight our Duchenne community’s policy priorities around the use of accelerated or adaptive approval, limiting exposure to placebo, and the regulatory importance of a benefit-risk framework specific to each product. They also include narratives that speak to the urgency and unmet need within our patient community.

FDA Guidance

We convened the PPMD Duchenne Policy Forum in December of 2013, which included patients, providers, and researchers from around the world, as well as 18 representatives from the FDA. This meeting served as the foundation of the development of the PPMD-led guidance.

We led a comprehensive and multi-stakeholder effort to prepare the first ever patient initiated draft guidance to industry developing Duchenne therapies. This PPMD-led guidance, “Guidance for Industry Duchenne Muscular Dystrophy Developing Drugs for Treatment over the Spectrum of Disease” was submitted to FDA in June 2014. PPMD’s guidance – along with a Duchenne Community Policy Forum convened by PPMD in December of 2013 – was the foundation used by the agency to develop its own draft guidance on the same topic entitled, “Duchenne Muscular Dystrophy and Related Dystrophinopathies: Developing Drugs for Treatment”.

The FDA finalized the Duchenne guidance in January 2018. This was the first time a patient community took on drafting their own guidance, it created a model for other rare disease groups to follow.

In 2022, PPMD submitted a revised community-led Duchenne Guidance for FDA to serve as an update to the original guidance that was submitted in July 2014. Because of so many advancements in knowledge, understanding, care, clinical trials, and approvals, it is important for us to now “modernize” the Community-Led Guidance of 2014 to reflect this new landscape in Duchenne and Becker therapy development. This new version includes updates to sections of the 2014 document as well as additional original sections covering cardiac, gene therapy, and informed consent sections for the FDA’s consideration. We have requested that the FDA officially open a new docket for this revised community guidance initiative to allow for broad public attention and commentary.

Understanding how critical it is that these updates are shared with the broader community, PPMD along with the Guidance Steering Committee elected to publish the revised community-led Duchenne Guidance and make it publicly available. The revised community-led Duchenne Guidance was published in the Journal of Neuromuscular Diseases in February 2024, and contains the executive summary outlining the updates to the document, with the entire document being available as a supplement.

Duchenne Patient-Focused Compass Meeting

In March of 2018, PPMD led the Duchenne Patient-Focused Compass Meeting (webcast recording available). The meeting was a critical opportunity to bring the patient-community’s voice and experience back into the center of the on-going assessment of the Duchenne landscape and was summarized through the July 2018 publication, PPMD Compass Meeting Report (download).

PPMD Compass Meeting materials: