UNCOVERING EVIDENCE GAPS IN THE CLINICAL, ECONOMIC, AND HUMANISTIC IMPACT OF DUCHENNE MUSCULAR DYSTROPHY: A COMPREHENSIVE LITERATURE REVIEW
Author(s)
Amal Jamaleddine, BASc1, Graceanne R. Wayser, MPH2, Joris Kleintjens, MSc3, Catherine Wilson, MSPH4, Jacquelyn Chou, MPP, MPL5, Maryanne Maliwat, BS, MPH6;
1Precision AQ, Montreal, QC, Canada, 2Precision AQ, New York, NY, USA, 3Precision AQ, USA, 4Regenxbio, Durham, NC, USA, 5Precision AQ, Los Angeles, CA, USA, 6Regenxbio, Brentwood, TN, USA
1Precision AQ, Montreal, QC, Canada, 2Precision AQ, New York, NY, USA, 3Precision AQ, USA, 4Regenxbio, Durham, NC, USA, 5Precision AQ, Los Angeles, CA, USA, 6Regenxbio, Brentwood, TN, USA
OBJECTIVES: Gene therapies for Duchenne Muscular Dystrophy (DMD) have the potential to offer a therapeutic approach to preserve motor function and potentially alter disease trajectory. However, current critical evidence gaps limit comprehensive value demonstration for these therapies. The aim of this study is to identify and validate evidence gaps across clinical, economic, and humanistic domains of DMD to inform strategies for demonstrating the multidimensional value of emerging investigational gene therapies.
METHODS: A gap analysis was conducted using a targeted literature review of studies published in the past five years, drawing from PubMed, Google Scholar, and health technology assessment (HTA) reports. Gray literature sources included conference abstracts and regulatory documents. Evidence was synthesized against a multidimensional value framework that mapped key areas, such as disease burden and clinical benefit. Three research scientists independently extracted data, with quality checks and adjudication by a senior scientist. Identified gaps were validated through expert consultation with former payers and HTA specialists to ensure alignment with real-world decision-making priorities.
RESULTS: Significant gaps persist across all domains. Clinical gaps include limited longitudinal data on microdystrophin, motor function trajectories across the lifespan and in patients below 4 to 5 years of age, additional functional data, durability of gene therapy effects, and immune-mediated safety signals, particularly in older and non-ambulatory populations. Humanistic gaps include insufficient data on pain, daily activity, social participation, quality of life, and utility changes over time for ambulatory and younger boys. Economic gaps include outdated healthcare cost estimates, which are often incomplete and based on pre-biologic treatment data, particularly for adverse event frequency and management costs.
CONCLUSIONS: Our findings reveal important gaps in data needed to characterize the full impact of DMD and its treatment. Addressing these gaps through multidimensional research will strengthen the evidence base required to accurately demonstrate the clinical, economic, and humanistic value of emerging therapies.
METHODS: A gap analysis was conducted using a targeted literature review of studies published in the past five years, drawing from PubMed, Google Scholar, and health technology assessment (HTA) reports. Gray literature sources included conference abstracts and regulatory documents. Evidence was synthesized against a multidimensional value framework that mapped key areas, such as disease burden and clinical benefit. Three research scientists independently extracted data, with quality checks and adjudication by a senior scientist. Identified gaps were validated through expert consultation with former payers and HTA specialists to ensure alignment with real-world decision-making priorities.
RESULTS: Significant gaps persist across all domains. Clinical gaps include limited longitudinal data on microdystrophin, motor function trajectories across the lifespan and in patients below 4 to 5 years of age, additional functional data, durability of gene therapy effects, and immune-mediated safety signals, particularly in older and non-ambulatory populations. Humanistic gaps include insufficient data on pain, daily activity, social participation, quality of life, and utility changes over time for ambulatory and younger boys. Economic gaps include outdated healthcare cost estimates, which are often incomplete and based on pre-biologic treatment data, particularly for adverse event frequency and management costs.
CONCLUSIONS: Our findings reveal important gaps in data needed to characterize the full impact of DMD and its treatment. Addressing these gaps through multidimensional research will strengthen the evidence base required to accurately demonstrate the clinical, economic, and humanistic value of emerging therapies.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
SA57
Topic
Study Approaches
Topic Subcategory
Literature Review & Synthesis
Disease
SDC: Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), SDC: Pediatrics, SDC: Rare & Orphan Diseases