Journal article
Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development
Neurology. Clinical practice, Vol.15(5), e200496
07/30/2025
DOI: 10.1212/CPJ.0000000000200496
PMCID: PMC12314789
PMID: 40756520
Abstract
Limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that generally result in weakness and loss of limb-girdle muscles, leading to severe disability and early mortality due to cardiac and respiratory complications. Heterogeneity across and within individual LGMD subtypes in addition to variability in progression rates presents significant challenges to traditional drug development approaches for these diseases. In an effort to discuss these challenges, as well as opportunities in support of advancing drug development for LGMD, on February 8, 2024, The Speak Foundation assembled a multistakeholder group consisting of academic medical experts, patients and caregivers, patient advocacy organizations, senior leaders from the US Food and Drug Administration, and commercial drug developers. This review will provide an overview of the broad range of topics discussed at the workshop, including LGMD pathophysiology, natural history studies, clinical outcomes, patient-focused drug development, surrogate end points, the Accelerated Approval pathway, and future directions for LGMD drug development.
Details
- Title: Subtitle
- Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development
- Creators
- Matthew P. Wicklund - The University of Texas Health Science Center at San AntonioLindsay N. Alfano - Nationwide Children's HospitalNicholas E. Johnson - Virginia Commonwealth UniversityPeter B. Kang - University of Minnesota Medical CenterPeter Marks - Center for Biologics Evaluation and ResearchKatherine D. Mathews - University of Iowa Health CareJerry R. Mendell - Nationwide Children's HospitalLouise Rodino-Klapac - Sarepta TherapeuticsDouglas Sproule - BridgeBioNicole Verdun - Center for Biologics Evaluation and ResearchKathryn Bryant - The Speak Foundation, Tallahassee, FL
- Resource Type
- Journal article
- Publication Details
- Neurology. Clinical practice, Vol.15(5), e200496
- DOI
- 10.1212/CPJ.0000000000200496
- PMID
- 40756520
- PMCID
- PMC12314789
- NLM abbreviation
- Neurol Clin Pract
- ISSN
- 2163-0402
- eISSN
- 2163-0933
- Publisher
- Lippincott Williams & Wilkins
- Grant note
- Cure LGMD2i FoundationJain Foundation, Coalition to Cure Calpain 3 FoundationLimb Girdle Muscular Dystrophy Awareness FoundationEveryLife Foundation for Rare Diseases - Speak Foundation
The Speak Foundation acknowledges the following contributors in this patient community and thanks them for participation: Brooklyn Garza, Donavon Decker, Kelly Brazzo on behalf of Sammy Brazzo, Rachel Deconti on behalf of Jacob Deconti, and Joshua M. Thayer, ESQ. The authors also thank the following organizations for their valuable participation and incredible expertise: LGMD 2D Foundation, Cure LGMD2i Foundation, Jain Foundation, Coalition to Cure Calpain 3 Foundation, Limb Girdle Muscular Dystrophy Awareness Foundation, and EveryLife Foundation for Rare Diseases. Medical writing and editorial support were provided by Marjet Heitzer, Ph.D., of 360 Medical Writing and funded by The Speak Foundation.
- Language
- English
- Date published
- 07/30/2025
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984927087802771
Metrics
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