Conference Proceedings
Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy
KG Meilleur, M Jain, E Kim, L Hynan, CY Shieh, M Waite, T Duong, A Glanzman, M Main, K Rose, M McGuire, R Bendixen, R Foley, S Donkervoort, A Schindler, A Kokkinis, EJ Hartnett, M Leach, J Dastgir, K North Show all
NEUROMUSCULAR DISORDERS | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2012
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),..
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