First ever patient advocacy-initiated draft guidance on a rare disease issued to the U.S. Food and Drug Administration (FDA)

By: Pat Furlong

MK&A presents our first guest blogger, Pat Furlong. Pat is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (Duchenne). Its mission is to improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne through research, advocacy, education, and compassion. MK&A is proud of our association with Pat and PPMD and the strides we have made together for the patients, families and caregivers of this rare disease.

Mark Krueger


Parent Project Muscular Dystrophy (PPMD) and a broad coalition of stakeholders created the first-ever patient advocacy-initiated draft guidance on a rare disease for the U.S. Food and Drug Administration (FDA). It was submitted on June 25, 2014. “Developing Drugs for Treatment over the Spectrum of Disease” is designed to help accelerate development and review of potential therapies for Duchenne muscular dystrophy (Duchenne); the most common lethal genetic disorder diagnosed in childhood. A progressive and degenerative condition with no cure and no causal therapy options approved in the United States. The guidance represents a milestone in the engagement of patients, families, basic researchers, clinicians, and industry in the development of new standards that reflect community needs. It also presents a model for use by other rare disease communities using a methodology that catalyzes the knowledge and experience of all stakeholders.

Thirty years ago, there was little research in developing therapeutics to slow the course of Duchenne. However, due to the efforts of PPMD and other Duchenne advocacy organizations, funding for Duchenne research has improved substantially, particularly with the passage of the MD-CARE Act[i]. This has led to tremendous scientific advances on a number of fronts in the fight against Duchenne. There is now a pipeline full of potential new treatments. With new drugs in development, the need for a focused regulatory strategy became apparent. This focus ultimately led to the drafting of the guidance.

In the spring of 2013, European Medicines Agency released its guidance on Duchenne. Prior to and during this time, PPMD coordinated meetings with FDA to discuss central themes surrounding the need for new treatments for Duchenne, particularly the unmet need and benefit risk of patients and their families. As PPMD continued to meet with FDA, it discussed the need for guidance in the US, particularly since the EMA guidance lacked the voice of the community. These conversations were timely, given the potential opportunities, the number of biotech and pharmaceutical companies interested in Duchenne, the current pipeline and the reality that trials in small populations with clinical variability as well as variability in care may lead to failed trials.

PPMD met with FDA to explore their interest in developing guidance on Duchenne. FDA’s response was that they had neither the financial resources nor internal capability to develop such guidance and recommended the community consider developing guidance. PPMD embraced the opportunity and reached out to Mark Krueger & Associates, Inc. (MK&A) based on its extensive experience in uniting stakeholders around a shared vision and having the depth of resources to ensure a successful project. Together with MK&A, PPMD identified a steering committee which included patients, their family members, leading researchers, clinicians and industry representatives.  The steering committee identified seven thematic working groups that would contribute content to different sections of the guidance: Benefit/risk; diagnosis; natural history; biomarkers one relating to biopsy and protein replacement; biomarkers two relating to serum, urine and MRI; trial design and patient imperatives.  This last working group along with a community advisory board ensured the patient voice was a central theme throughout the guidance.

Collectively, this unique process involved bringing more than 80 representatives of the Duchenne community. Patient advocates and patients, medical experts, academics, and biopharmaceutical industry representatives collaborated in the development of evidence-based industry guidance in approximately six months.

The process behind the guidance represents the culmination of PPMD’s 20 year history of improving care and developing urgently needed therapies for Duchenne. The draft guidance builds on PPMD’s effort to shape federal policy that reflects the needs of families living with Duchenne, including the release of “Putting Patients First” which calls on the FDA to act more flexibly when reviewing applications for Duchenne therapies. PPMD did not do this alone and represents the efforts of over 200 stakeholders in a six month period.

This public-private approach to the development of draft guidance sets a precedent. The process offers the best opportunity for a rare disease community’s voice to be embedded into guidance that will help shape the way the agency reviews new potential therapies in each disease area. It is the hope of those involved with drafting the guidance that our transparency can help other communities duplicate the process and move their own agendas forward faster with the agency to provide a framework for the FDA to exercise maximum flexibility when reviewing future new drug applications.

[i] Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments Act (MD-CARE Act), originally passed in 2001 and reauthorized in 2008. Amendments were signed into law in 2014. The Act provides research and infrastructure needed to accelerate discovery and bring drugs to market for all nine forms of muscular dystrophy.

About the Author:

Pat Furlong

Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy.  For more information about Pat or PPMD, please visit

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