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FDA Draft Guidance on Duchenne


PPMD and a broad coalition of stakeholders has submitted the first-ever patient advocacy-initiated draft guidance for a rare disease to the U.S. Food and Drug Administration (FDA) to help accelerate development and review of potential therapies for Duchenne muscular dystrophy.

More than 80 representatives of the Duchenne community - including parents and patients, medical experts, academics, and biopharmaceutical industry representatives - participated in seven working groups that met over the past six months to draft the guidance.

Community Imperatives & Cover Letter

Click here to download the PDF

The Guidance

Click here to download the PDF

The cornerstone of the guidance encourages the FDA and trial sponsors to engage patients and their families at all stages of trial development and to take into account what they consider acceptable risk in clinical trials. A recent PPMD study published in the journal Clinical Therapeutics shows that parents of children with Duchenne will accept substantial risk when balanced with noncurative slowing or stopping of the progression of muscle weakness, even with no improvement in life expectancy. The results came from the first-ever scientific survey of benefit/risk perspectives that PPMD conducted last year involving 120 Duchenne parents.

Areas of Focus

Each section of the guidance includes extensive published or in-press peer-reviewed articles and focuses on six areas aimed at overcoming the challenges in trial design and implementation:

  • Benefit/Risk Assessment
    Providing a community-centered approach for the benefit-risk framework fundamental to the regulatory process and reflecting the community’s tolerance of potential risks or uncertainty of benefit associated with new treatment options.

  • Diagnosis
    Referring sponsors to guidance produced by the American Academy of Pediatrics (AAP) on a diagnostic algorithm, as well as, providing context on diagnostic delay and importance of genetic analysis using modern technologies, including access to genetic testing.

  • Natural History
    Accurately characterizing the clinical course of Duchenne to reflect the timing of the loss of certain abilities based on current medical management practices, including how Duchenne affects cardiac and pulmonary function.

  • Clinical Trial Designs, Outcome Measures and Considerations
    Ensuring that trials to the degree possible are inclusive of Duchenne patients of all ages and disease stages.

  • Muscle Biopsy-Based Biomarkers
    Addressing key considerations when performing muscle biopsies, including the ethical imperative to perform them only when needed and precautions to assure usable specimens; sponsors are also referred to an international effort to standardize methodologies and emerging technologies.

  • Non-Muscle Biopsy-Based Biomarkers
    Exploring the ability to bring non-invasive imaging techniques to replace biopsy (e.g., MRI/MRS skeletal muscle imaging) and eventually reach the goal of being a surrogate endpoint for treatment trials.

Steering Committee

  • Neera Gulati, MD – Patient Representative
  • John F P Bridges PhD – Johns Hopkins Bloomberg School of Public Health 
  • Justin Fallon, PhD – Brown University, Professor of Neuroscience 
  • Kevin M. Flanigan, MD – Neurologist, Nationwide Children’s Hospital 
  • Craig M. McDonald, M.D. – UC Davis NeuroNEXT Program Director
  • Lawrence Charnas, MD, PhD – Discovery Medicine Lead, Shire 
  • Lee Sweeney, PhD – University of Pennsylvania
  • Pat Furlong – Parent Project Muscular Dystrophy 
  • Tim Franson, MD – FaegreBD Consulting 
  • Professional Writer – Theo Smart 
  • Project Management – Mark Krueger and Associates 

Working Groups

Working Group 1 – Benefit Risk
Co- chair: John Bridges - John's Hopkins University
Co- chair: Holly Peay  –  Parent Project Muscular Dystrophy


  • Patrick Denger – Parent/Patient advocate
  • Susan DosReis – Department of Pharmacy, UMD
  • Reed Johnson – RTI
  • Peter Pitts – Center for Medicine in the Public Interest
  • Erin Barnett – Parent/Patient advocate
  • Ellen Wagner – Parent/Patient advocate
  • Richard Hermann, MD, MPH AstraZeneca
  • Bennett Levitan – Johnson & Johnson
  • Marilyn Metcalf, PhD – GSK
  • Rebecca Noel, DrPH,MPH – Eli Lilly and Company

Working Group 2 – Diagnosis
Chair: Kevin Flanigan, MD – Nationwide Children's Hospital


  • Doug Biggar, MD – Holland Bloorview Kids Rehabilitation
  • Katie Bushby, MD – Newcastle University
  • Avital Cnaan, PhD – George Washington University
  • David Cox, PhD – Eli Lilly
  • Kevin Flanigan, MD – Nationwide Children's Hospital
  • Nathalie Goemans – Universitair Ziekenhuis Leuven
  • Mohamed Haider – Patient
  • Eugenio Mercuri – The Agostino Gemelli Hospital, Italy
  • Marissa Penrod – Parent/Patient advocate
  • Allen Reha, MS – PTC Therapeutics

Working Group 3 – Natural History
Chair: Craig McDonald, MD – UCDavis


  • Doug Biggar, MD – Holland Bloorview Kids Rehabilitation
  • Katie Bushby, MD – Newcastle University
  • Avital Cnaan, PhD – George Washington University
  • David Cox, PhD – Eli Lilly
  • Kevin Flanigan, MD – Nationwide Children's Hospital
  • Nathalie Goemans – Universitair Ziekenhuis Leuven
  • Mohamed Haider – Patient
  • Eugenio Mercuri – The Agostino Gemelli Hospital, Italy
  • Marissa Penrod – Parent/Patient advocate
  • Allen Reha, MS – PTC Therapeutics

Working Group 4 – Biomarkers 1 (dystrophin/utrophin)
Chair: Justin Fallon, PhD - Brown University


  • Annemieke Aartsma-Rus – Department of Human Genetics of the LUMC
  • Mindy Cameron – Parent/Patient advocate
  • James Ervasti, PhD – University of Minnesota
  • Justin Fallon, PhD – Brown University
  • Kevin Flanigan, MD – Nationwide Children's Hospital
  • Sharon Hesterlee, PhD – Parent Project Muscular Dystrophy
  • Eric Hoffman, PhD – Children's National Medical Center
  • Afrodite Lourbakos, PhD – Prosensa Therapeutics
  • Steve Moore, PhD – Wellstone Center at the University of Iowa
  • Peter Sazani, PhD – Sarepta Therapeutics

Working Group 5 – Biomarkers 2 (MRI/blood/urine)
Chair: Lee Sweeney, PhD University of Pennsylvania


  • Terri Ellsworth – Parent/Patient advocate
  • Larry Gold, PhD – SomaLogic
  • Glen Nuckolls, PhD – National Institutes of Health (NIH)
  • Stu Peltz, PhD – PTC Therapeutics
  • Bill Rooney, PhD – Oregon Health & Science University
  • Krista Vandenborne, PhD – University of Florida
  • Glenn Walter, PhD – University of Florid

Working Group 6 – Clinical Trial Design & Outcome Measure
Chair: Lawrence Charnas, MD, PhD Shire


  • Giles Campion, MD – Prosensa
  • Catherine Collins – Parent/Patient advocate
  • Linda Cripe, MD – Nationwide Children's Hospital
  • Nathalie Goemans, MD., PhD Kinderneurologic-NMRC
  • Ed Kaye, MD – Sarepta Therapeutics
  • Craig McDonald, MD – UC Davis Health System
  • Eugenio Mercuri, MD The Agostino Gemelli, Italy
  • Elizabeth Vroom, MD – UPPMD

Working Group 7 – Imperatives
Chair: Pat Furlong – Parent Project Muscular Dystrophy


  • Margaret Anderson – Faster Cures
  • Steve Dreher – Parent/Patient advocate
  • Tim Franson, MD – FaegreBD Consulting
  • Stephen Groft – National Institutes of Health (NIH)
  • Marlene Haffner, MPH – Haffner Associates, LLC
  • Annie Kennedy – Muscular Dystrophy Association (MDA)
  • Jeff Watkins – Parent/Patient advocate
  • Julia Jenkins – Everylife Foundation


Community Advisory Board

Managed by: Ryan Fischer (PPMD)

Foundation Representatives

  • Steve Dreher – Hope for Gus
  • Neera Gulati, MD – Suneel's Light
  • Cath Jayasuriya – Coalition Duchenne
  • Alex Johnson – Joining Jack
  • Jenn Mcnary – The Jett Foundation
  • Christine McSherry – The Jett Foundation
  • Robert Meadowcroft – Muscular Dystrophy Campaign
  • Debra Miller – CureDuchenne
  • Marissa Penrod – Team Joseph
  • Jen Portnoy – Hope for Javier
  • James Raffone – Jar of Hope
  • Diana Ribeiro – Action Duchenne
  • Tracy Seckler – Charley's Fund
  • Alex Smith – Harrison's Fund
  • Elizabeth Vroom – UPPMD
  • Allison Willis – Two Smiles One Hope Foundation

Patient and Parent Reps

  • Elliot Barnett
  • Lynnette Bartels
  • Karen Burch
  • Sarah Burgess
  • Mindy Cameron
  • Catherine Collins
  • Brian Denger
  • Debbie Dupree
  • Terri Ellsworth
  • Anessa Fehsenfeld
  • Julie Garcia
  • Mohamed Haider
  • Joanna Johnson
  • Grace Lightcap
  • Elizabeth Longmire
  • Jessica May
  • Todd Morrow
  • Stan Nelson, MD, PhD
  • Christine Piacentino
  • Elliot Barnett
  • Regina Reidenberg
  • Aparna Surampudi
  • Tayjus Surampudi
  • Ellen Wagner
  • Jeff Watkins

PPMD-Led Efforts

The suggested FDA guidance represents the culmination of PPMD’s 20 year history of improving care and developing urgently needed therapies for Duchenne. PPMD led the effort to pass the MD-CARE Act, which created the Senator Paul Wellstone Muscular Dystrophy Cooperative Research Centers. 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 also ensured that the FDA Safety & Innovation Act of 2012 (FDASIA) responded to the needs of the community; recently published a groundbreaking benefit/risk study which documented the willingness of families to live with risk; and held a national PPMD-FDA Duchenne Policy Forum where the community made its needs and preferences in drug development known to the Agency.

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