TY - JOUR
T1 - Patient reported quality of life in limb girdle muscular dystrophy
AU - Kovalchick, Laurel V.
AU - Bates, Kameron
AU - Statland, Jeffrey
AU - Weihl, Conrad
AU - Kang, Peter B.
AU - Lowes, Linda P.
AU - Mozaffar, Tahseen
AU - Straub, Volker
AU - Wicklund, Matthew
AU - Heatwole, Chad
AU - Johnson, Nicholas E.
N1 - Funding Information:
Dr. Heatwole receives royalties for the use of multiple disease specific instruments. He has provided consultation to Biogen Idec, Ionis Pharmaceuticals, aTyr Pharma, AMO Pharma, Acceleron Pharma, Cytokinetics, Expansion Therapeutics, Harmony Biosciences, Regeneron Pharmaceuticals, Astellas Pharmaceuticals, AveXis, Recursion Pharmaceuticals, IRIS Medicine, Inc., Takeda Pharmaceutical Company, Scholar Rock, and the Marigold Foundation. He receives grant support from Duchenne UK, Parent Project Muscular Dystrophy, Recursion Pharmaceuticals, the National Institute of Neurological Disorders and Stroke, the Muscular Dystrophy Association, the Friedreich's Ataxia Research Alliance, Cure Spinal Muscular Atrophy, and the Amyotrophic Lateral Sclerosis Association.
Funding Information:
Dr. Kang consults for AveXis (Novartis) and has served on advisory boards for Sarepta Therapeutics. He has received grant funding from ML Bio.
Funding Information:
Dr. Straub has research collaborations funded by Sarepta Therapeutics, Ultragenyx and Sanofi Genzyme. He received speaker honoraria from Sanofi Genzyme and serves or recently served on advisory boards for Audentes Therapeutics, Vertex Pharmaceuticals, Roche, Sanofi Genzyme, Sarepta Therapeutics, Summit Therapeutics, and Wave Therapeutics. He chairs the Global FKRP Registry, which is funded by the LGMD2iFund.
Funding Information:
Dr. Weihl receives grant support from NIAMS K24AR073317, has provided consultation to Sarepta Therapeutics and Casma Therapeutics. He serves on advisory boards for Sarepta, MLBio and Orphazyme.
Funding Information:
Dr. Statland reports grant funding from NIH, MDA, FSHD Society, Friends of FSH Research, and FSH Canada; reports consultation or advisory board work for Dyne Therapeutics, Acceleron, Avidity, Fulcrum, Sarepta, Genzyme, and MT Pharma.
Funding Information:
Dr. Mozaffar has received honoraria and travel reimbursement for serving on advisory boards for Abbvie, Alexion, Amicus, Argenx, Audentes, Modis, Momenta, Ra Pharmaceuticals, Sanofi-Genzyme, Sarepta, Spark Therapeutics, UCB, and Ultragenyx. He has also served on the speaker's bureau for Alexion, CSL, Grifols, and Sanofi-Genzyme. Dr. Mozaffar serves on the medical advisory board for the Myositis Association, Neuromuscular Disease Foundation, Myasthenia Gravis Foundation of California and Myasthenia Gravis Foundation of America and has received travel funding from the Myositis Association and the Neuromuscular Disease Foundation. Dr. Mozaffar receives research funding from the Myositis Association, the Muscular Dystrophy Association, the National Institutes for Health and from the following sponsors: Alexion, Amicus, Argenx, Audentes, Bristol-Myers-Squib, Cartesian Therapeutics, Grifols, Momenta, Ra Pharmaceuticals, Sanofi-Genzyme, Spark Therapeutics, UCB, and Valerion. He has served on the data safety monitoring board for Acceleron, Avexis, and NIH.
Publisher Copyright:
© 2021 Elsevier B.V.
PY - 2022/1
Y1 - 2022/1
N2 - This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). Participants with a diagnosis of LGMD in registries based at the Coalition to Cure Calpain-3, the Jain foundation, and the Global FKRP Registry competed a survey to report the frequency and relative impact of themes and symptoms of LGMD. Frequency, mean impact, and population impact scores were calculated, and responses were categorized by age, symptom duration, gender, employment status, use of assistive devices, and LGMD subtypes. 134 participants completed the survey. The most prevalent themes included an inability to do activities (100%), limitation with mobility (99.3%), and lower extremity weakness (97.0%). Themes with the greatest impact were: limitations with mobility, lower extremity weakness, and an inability to do activities. Symptom duration and the use of assistive devices were associated with the presence of multiple themes. Employment was associated with the impact of several themes with no differences in frequency. The prevalence and impact of these themes vary in the LMGD population. The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings.
AB - This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). Participants with a diagnosis of LGMD in registries based at the Coalition to Cure Calpain-3, the Jain foundation, and the Global FKRP Registry competed a survey to report the frequency and relative impact of themes and symptoms of LGMD. Frequency, mean impact, and population impact scores were calculated, and responses were categorized by age, symptom duration, gender, employment status, use of assistive devices, and LGMD subtypes. 134 participants completed the survey. The most prevalent themes included an inability to do activities (100%), limitation with mobility (99.3%), and lower extremity weakness (97.0%). Themes with the greatest impact were: limitations with mobility, lower extremity weakness, and an inability to do activities. Symptom duration and the use of assistive devices were associated with the presence of multiple themes. Employment was associated with the impact of several themes with no differences in frequency. The prevalence and impact of these themes vary in the LMGD population. The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings.
KW - Dysferlin, Calpain-3
KW - FKRP
KW - Limb girdle muscular dystrophy
KW - Patient report
KW - Quality of life
UR - http://www.scopus.com/inward/record.url?scp=85121775734&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2021.11.002
DO - 10.1016/j.nmd.2021.11.002
M3 - Article
C2 - 34961728
AN - SCOPUS:85121775734
VL - 32
SP - 57
EP - 64
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 1
ER -