Abstract Details

Title The Limb Girdle Muscular Dystrophy Health Index

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) S7 - Outcome Measures and Observational Studies of Neuromuscular Diseases (3:54 PM-4:06 PM)

Poster/Presentation
Number 003

Background Limb girdle muscular dystrophy (LGMD) is a group of rare muscular dystrophies caused by mutations in genes needed for muscle maintenance, repair and normal function. As therapeutic trials for LGMD take place, an objective measure of patient-reported disease burden is needed.

Objective This study describes the development of the Limb Girdle Muscular Dystrophy Health Index (LGMDHI), a disease-specific patient-reported outcome measure designed for therapeutic trials.

Design/Methods Participants were recruited from three LGMD registries: Coalition to Cure Calpain-3 (https://www.curecalpain3.org/registry/), the Jain Foundation (https://dysferlinregistry.jain-foundation.org/), and the Global FKRP (https://www.fkrp-registry.org/); and from the ongoing GRASP-LGMD consortium natural history study. All participants were aged >18 years and had a diagnosis of genetically confirmed or clinically diagnosed LGMD. An initial survey was used to determine the importance and prevalence of 161 symptoms. Using survey data, expert review, factor analysis, and test-retest reliability we developed the LGMDHI.

Results In total, 163 individuals completed the initial survey. Following expert review, survey questions were eliminated based on a lack of perceived responsiveness to intervention (24), lack of generalizability (22), vague wording (7), unclear language (4), and redundancy (2). Subscales were created based on expert review and exploratory factor analysis. Test-retest reliability of the LGMDHI and its subscales was conducted with 32 participants. Five questions were eliminated due to a Cohen’s kappa below 0.5. Intraclass correlation coefficient (ICC) scores for the final subscales ranged from 0.61 to 0.96. The final version of the LGMDHI consists of 15 subscales and 97 questions that measure the 15 symptomatic themes of greatest importance to individuals with LGMD.

Conclusions The LGMDHI provides a valid and reliable outcome measure to assess patient-reported disease burden in LGMD. On behalf of the GRASP-LGMD Consortium.

Authors/Disclosures
Joy A. Stouffer PRESENTER	Ms. Stouffer has nothing to disclose.
	No disclosure on file
	No disclosure on file
Chad R. Heatwole, MD, FAAN (University of Rochester Medical Center)	Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Legal Med. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Swan Bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $0-$499 for serving as a Consultant for Iris. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Biosciences. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for New York Central Mutual. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Penn Prop and Gas. The institution of Dr. Heatwole has received research support from Department of Defense. The institution of Dr. Heatwole has received research support from Novartis. The institution of Dr. Heatwole has received research support from MJFF. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from University of Miami. The institution of Dr. Heatwole has received research support from MDA. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care.
Nicholas E. Johnson, MD, FAAN (Virginia Commonwealth University)	Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for ML BIo . Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Entrada. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Rgenta. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Angle Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum. Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. The institution of Dr. Johnson has received research support from Novartis. The institution of Dr. Johnson has received research support from Takeda . The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from AskBio. The institution of Dr. Johnson has received research support from Pepgen. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Arthex. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.