Abstract Details

Title Relative Prevalence of Limb Girdle Muscular Dystrophies in the United States Population

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P07 - (-)

Poster/Presentation
Number 030

Objective

Background BACKGROUND: The LGMDs comprise a group of more than 25 autosomal dominant and recessive genetic muscle diseases with a common phenotype - predominant weakness in the hip and shoulder girdles. Estimated worldwide prevalence of the LGMDs ranges from 0.5 to 4 per 100,000. The relative prevalence of LGMD subtypes is known for small, regional, European populations, but significant ethnic and geographic variability exists. There is no good genetic study of the relative prevalence of LGMD subtypes in the US population.

Design/Methods DESIGN/METHODS: Athena Diagnostics has performed genetic testing for LGMD subtypes since the early 2000s. A large proportion of genetic testing in the United States has been performed by Athena Diagnostics laboratories. In addition, 90% of Athena Diagnostics genetic testing derives from US sources. We evaluated LGMD 1B, 1C, 2A-F and 2I. Sanger DNA sequencing was performed of the entire coding region on CAPN3, CAV3, DYSF, FKRP, LMNA, SGCA, SGCB, SGCD and SGCG, including the highly conserved flanking intronic sequences of the exon-intron splice junctions. Positive genetic tests for each LGMD subtype, with pathogenicity documented in the literature, were collated and stratified by relative prevalence.

Results RESULTS: Calpainopathies, comprise the largest subset in this predominantly US population at 30%, followed by these subtypes in descending order of prevalence: dysferlin - 18%; FKRP - 17%; LMNA - 11%; ?-sarcoglycan - 9%; ?-sarcoglycan - 5%; ?-sarcoglycan; caveolin - 3%; and ?-sarcoglycan - 3%. As a combined subgroup, sarcoglycanopathies were the second most common disorder.

Conclusions CONCLUSIONS: In the population sampled, calpainopathies are the most common LGMD subtype in the US population, similar to most European countries. However, other subtypes comprise significant proportions of the whole. Availability of this data will help guide investigators in future epidemiological, clinical and treatment trials.

Authors/Disclosures
Matthew P. Wicklund, MD, FAAN (UT Health San Antonio) PRESENTER	Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus Therapeutics. Dr. Wicklund has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi-Genzyme. Dr. Wicklund has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta Therapeutics. Dr. Wicklund has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Spark Therapeutics. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ultragenyx. Dr. Wicklund has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vertex Pharmaceuticals. The institution of Dr. Wicklund has received research support from Orphazyme. The institution of Dr. Wicklund has received research support from Muscular Dystrophy Association. The institution of Dr. Wicklund has received research support from Coalition to Cure Calpain 3. The institution of Dr. Wicklund has received research support from Sarepta Therapeutics. The institution of Dr. Wicklund has received research support from ML Bio. The institution of Dr. Wicklund has received research support from Alexion. The institution of Dr. Wicklund has received research support from Acceleron. The institution of Dr. Wicklund has received research support from Edgewise. The institution of Dr. Wicklund has received research support from Fulcrum. The institution of Dr. Wicklund has received research support from Roche-Genentech. The institution of Dr. Wicklund has received research support from Avidity. Dr. Wicklund has received research support from Harmony Bioscience.
	No disclosure on file
Khalida Liaquat	No disclosure on file
Izabela Karbassi (Athena Diagnostics /Quest Diagnostics)	No disclosure on file
John F. De Groot, MD (UC San Francisco Medical Center)	An immediate family member of Dr. De Groot has received personal compensation for serving as an employee of Ziopharm Oncology. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Celldex. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Deciphera Pharmaceuticals. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for AbbVie. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for FivePrime Therapeutics, Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for GW Pharma. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Carthera. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Eli Lilly. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Kadmon. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Boston Biomedical Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Taiho Pharmaceuticals. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Kairos Venture Investments. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Syneos Health. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Monteris. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Agios. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Mundipharma Research. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for GenomiCare. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Blue Earth Diagnostics. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Del Mar Pharmaceuticals. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Insightec. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Voyager Therapeutics, Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Merck & Co.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Tocagen. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Bioasis Technologies, Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for ResTORbio, Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Roche. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Celldex. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Foundation Medicine, Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novogen. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Deciphera. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Astrazeneca. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Insys Therapeutics. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck & Co.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli Lily. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novella Clinical. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Karyopharm Therapeutics. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Blue Earth Diagnostics. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kiyatec. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vanquish Oncology. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Orsenix, Insightec. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Prelude Therapeutics. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Debiopharm Therapeutics, Inc.. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janssen Global Services, LLC. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for VBL Therapeutics. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novella. Dr. De Groot has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for VBI Vaccines, Inc.. An immediate family member of Dr. De Groot has received stock or an ownership interest from Ziopharm Oncology. An immediate family member of Dr. De Groot has received stock or an ownership interest from Gilead. The institution of Dr. De Groot has received research support from Carthera. The institution of Dr. De Groot has received research support from HaiHe Pharma. The institution of Dr. De Groot has received research support from Taiho Pharma.

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