Abstract
P292 Clinical outcome assessments in limb girdle muscular dystrophy R1/2A: a longitudinal update
Neuromuscular disorders : NMD, Vol.33(Suppl. 1), pp.S116-S116
10/2023
DOI: 10.1016/j.nmd.2023.07.202
Abstract
LGMDR1, an autosomal recessive LGMD due to mutations in calpain-3 (CAPN3), results in progressive muscle weakness. Advances in gene replacement technologies require planning for future clinical trials and better understanding of disease progression measured by clinical outcome assessments (COAs). The purpose of our study was to evaluate the relationship between COAs and disease severity in a sample of patients with limb girdle muscular dystrophy R1 (LGMDR1). We report longitudinal data from our prospective observational study of clinically affected, genetically defined LGMDR1 participants. A battery of COAs were performed across two-day baseline visits, followed by 6 and 12-month visits. Linear regression was calculated to assess impact of disease duration on COAs based on genetic variant categorization. Forty-one (75 target) participants have enrolled. The mean age 33.4 years (7-59 years) with mean symptom onset at 16.9 years (2-44 years). Participants were stratified into variant subcategories based on genetic mutations. The North Star Assessment for Limb Girdle-Type Dystrophies (NSAD) demonstrated 1.6 point decrease (SD± 3.5) and Performance of the Upper Limb (PUL) demonstrated 0.7 point decrease (SD± 2.2) from baseline to 12 months. Additionally, ambulatory participants’ time to complete the 10-Meter Timed Test increased by 0.28 seconds (SD± 1.0). Combination of COAs allows for continual evaluation across disease progression, while reducing floor/ceiling effects. Preliminary findings of COA performance in relation to disease duration suggest variants resulting in loss of function may result in more rapid disease progression. Additional longitudinal data on the full cohort enrolled will be presented. Available COAs quantify function across the spectrum of abilities with potential to measure anticipated rate of progression based on genetic mutation and age of onset.
Details
- Title: Subtitle
- P292 Clinical outcome assessments in limb girdle muscular dystrophy R1/2A: a longitudinal update
- Creators
- S. Hunn - Washington Univ St LouisL. Alfano - Nationwide Children's HospL. Lowes - Nationwide Children's HospM. Wicklund - University of Colorado DenverK. Mathews - University of IowaT. Mozaffar - University of California, IrvineD. Leung - Kennedy Krieger InstituteA. Jones - Virginia Commonwealth UniversityA. Butler - Virginia Commonwealth UniversityM. Hayes - University of Kansas Medical CenterS. Sasidharan - University of Kansas Medical CenterN. Reash - Nationwide Children's HospM. Iammarino - Nationwide Children's HospK. Laubscher - University of IowaS. Mockler - University of IowaR. Ausberger - University of California, IrvineM. Holzer - Kennedy Krieger InstituteN. Stinson - Kennedy Krieger InstituteM. Seiffert - Washington Univ St LouisJ. Statland - University of Kansas Medical CenterN. Johnson - Virginia Commonwealth UniversityC. Weihl - Washington Univ St LouisGRASP-LGMD Consortium
- Resource Type
- Abstract
- Publication Details
- Neuromuscular disorders : NMD, Vol.33(Suppl. 1), pp.S116-S116
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.nmd.2023.07.202
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 10/2023
- Academic Unit
- Physical Therapy and Rehabilitation Science; Neurology; Iowa Neuroscience Institute; Stead Family Department of Pediatrics; Neurology (Pediatrics)
- Record Identifier
- 9984473772702771
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