SMA – OUTCOME MEASURES AND REGISTRIES

peer reviewe

Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy

Objective: To understand the natural disease upper limb progression over 3 years of ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic factors. Methods: Forty boys with DMD (22 non-ambulatory and 18 ambulatory) with deletions in dystrophin that make them eligible for exon 53-skipping therapy were included. Clinical assessments, including Brooke score, motor function measure (MFM), hand grip and key pinch strength, and upper limb distal coordination and endurance (MoviPlate), were performed every 6 months and quantitative MRI of fat fraction (FF) and lean muscle cross sectional area (flexor and extensor muscles) were performed yearly. Results: In the whole population, there were strong nonlinear correlations between outcome measures. In non-ambulatory patients, annual changes over the course of 3 years were detected with high sensitivity standard response mean (|SRM| ≥0.8) for quantitative MRI-based FF, hand grip and key pinch, and MFM. Boys who presented with a FF27% were able to bring a glass to their mouth and retained this ability in the following 3 years. Ambulatory patients with grip strength >35% of predicted value and FF <10% retained ambulation 3 years later. Interpretation: We demonstrate that continuous decline in upper limb strength, function, and MRI measured muscle structure can be reliably measured in ambulatory and non-ambulatory boys with DMD with high SRM and strong correlations between outcomes. Our results suggest that a combination of grip strength and FF can be used to predict important motor milestones

Application for primary endpoint qualification of the 95th centile of stride velocity (SV95C) in Duchenne muscular dystrophy

peer reviewe

Evolution du comportement mécanique des pailles de blé après la récolte. Conséquences sur la gestion de la paille

10 ref. annexes *INRA Unité d'Agronomie de Laon-Péronne (FRA) Diffusion du document : INRA Unité d'Agronomie de Laon-Péronne (FRA) Diplôme : Dr. Ing

Change in mechanical properties of Wheat straw due to decomposition and moisture

International audienc

Premiers résultats prometteurs de l’essai rapamycine versus placebo pour le traitement de la myosite à inclusions (RAPAMI)

International audienc

DMD/BMD – OUTCOME MEASURES

peer reviewe

Wearable inertial sensors for longitudinal follow-up of patients with amyotrophic lateral sclerosis.

peer reviewe