Journal article
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies
KG Meilleur, MS Jain, LS Hynan, CY Shieh, E Kim, M Waite, M McGuire, C Fiorini, AM Glanzman, M Main, K Rose, T Duong, R Bendixen, MM Linton, IC Arveson, C Nichols, K Yang, KH Fischbeck, KR Wagner, K North Show all
Neuromuscular Disorders | Published : 2015
Abstract
Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD. In the first year, outcome measures tested included: Motor Function Measure 32 (MFM32), forced vital capacity (FVC) percent predicted sitting, myometry, goniometry, 10-meter walk, Ege..
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Awarded by National Institutes of Health
Funding Acknowledgements
We would like to thank the following people without which this study would not have been possible: the participants and their families for their time, flexibility, and commitment during the two years of this study; the nurses and staff of the NIH Clinical Center's outpatient neurology clinic (year 1) and pediatric outpatient clinic (year 2); the National Heart Lung and Blood Institute's Pulmonary Function Lab physicians, therapists, and staff; Mrs. Livija Medne for her assistance with the study in year 2; Dr. Carole Vuillerot and Dr. Joan Austin for their critical feedback on the manuscript. This work was supported by Cure CMD and the NIH intramural funds of the NINDS, NINR, and Mark O. Hatfield Clinical Research Center.