Abstract
2.10P Establishing clinical trial readiness in patients age 0-5 years with LAMA2-related congenital muscular dystrophy (READY CMD LAMA2)
Neuromuscular disorders : NMD, Vol.67(Suppl 1), 106727
09/29/2026
DOI: 10.1016/j.nmd.2026.106727
Abstract
LAMA2-related muscular dystrophy (LAMA2-RD) typically manifests early with severe skeletal muscle weakness, hypotonia, and dysphagia evident within the first months of life. Therapeutic strategies are expected to be most effective if implemented within the first years of life. While outcome measures and progression rates for children over age 5 are well understood, similar measures are not established for those <5 years, creating a gap in trial readiness. The primary objective of the READY CMD LAMA2 study is to validate clinical outcome assessments and biomarkers for children 5 years or younger with genetically-confirmed LAMA2-RD. Participants are followed for 2 years with visits occurring at baseline, 3, 6, 9, 12, 18, and 24 months. Both onsite and remote visits (remote only at 3 and 9 months) are included to reduce the burden of study participation. Participants complete a battery of clinical outcome assessments including: WHO motor milestones, Bayley scales -4th edition, Neuromuscular Gross Motor Outcome, Motor Function Measure–20, and the CHOP-Intend. Analysis will determine which outcomes are 1) feasible, 2) reliable in person and remotely, and 3) responsive to meaningful change over time. To date, 12 children (7 female) have enrolled across 8 of 15 sites (median age: 3.2 years; range: 1.2 – 4.9 years; 4 participants ≤ 2.5 years). Test-retest reliability was excellent across baseline visits and testing environments (ICC: 0.90 - 0.99, P<0.001). Baseline CK ranged from 298-1901 (U/L). No participant had seizures. Strength and function varied widely across the cohort: ambulatory (n=1), no milestone achievement (n=3), use of BiPAP (n=2), use of NG/G-tube (n=5). Cognitive and language scores also varied widely from severely delayed to within the average range. While READY CMD LAMA2 study is actively enrolling, initial data suggests all functional outcomes are feasible and reliable in this heterogeneous cohort.
Details
- Title: Subtitle
- 2.10P Establishing clinical trial readiness in patients age 0-5 years with LAMA2-related congenital muscular dystrophy (READY CMD LAMA2)
- Creators
- Lindsay Alfano - Nationwide Children's HospitalKevin Warf - Nationwide Children's HospitalMegan Iammarino - The University of Texas at San Antonio Health Science CenterNatalie Reash - Nationwide Children's HospitalLinda Lowes - Nationwide Children's HospitalMina Jain - National Institutes of Health, Bethesda, USASara Marshall - Nationwide Children's HospitalRejuan Haque - The Ohio State UniversityKaitlin Batley - UT Southwestern Medical Center, Dallas, USAHoda Abdel Hamid - Children's Hospital of PittsburghKatherine Mathews - University of IowaPerry Shieh - UCLA, Los Angeles, USACarolina Tesi-Rocha - Stanford UniversityCuixia Tian - Cincinnati Children's Hospital Medical CenterCraig Zaidman - Washington University St. Louis, St. Louis, USACarsten Bonnemann - St. Jude Children's Research HospitalGuy Brock - The Ohio State UniversityMegan Waldrop - Nationwide Children's HospitalA. Reghan Foley - National Institutes of HealthAnne Connolly - Nationwide Children's Hospital
- Resource Type
- Abstract
- Publication Details
- Neuromuscular disorders : NMD, Vol.67(Suppl 1), 106727
- DOI
- 10.1016/j.nmd.2026.106727
- ISSN
- 0960-8966
- Publisher
- Elsevier B.V
- Language
- English
- Date published
- 09/29/2026
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9985241828802771
Metrics
1 Record Views