S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy

Abstract Potential therapies targeting primary deficiencies and downstream targets are under development for two extracellular matrix related congenital muscular dystrophy (CMD) subtypes, COL6 and LAMA2. However, outcome measures for clinical trials have not been validated in CMD. We performed a pilot study of various outcomes measures to test the feasibility of obtaining measurements in CMD and to validate their use for future clinical trials. Twenty-nine patients participated in the study (16 COL6 and 13 LAMA2). Measures tested included: myometry (knee flexion, elbow flexion and extension, cervical flexion in sitting) forced vital capacity sitting in liters (FVC), Motor Function Measure 32 (MFM32), North Star Ambulatory Assessment (NSAA), and Hammersmith Functional Motor Scales. We performed Spearman Rank analysis to assess their correlations. Our study revealed the following: myometry measures reflect feasibility of obtaining reproducible measurements, including knee flexion, elbow flexion and elbow extension, which correlated with MFM32 total score (r = 0.59–0.69, p