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Active clinical trials for "Muscular Dystrophies, Limb-Girdle"

Results 41-48 of 48

Cardiac Outcome Measures in Children With Muscular Dystrophy

Duchenne Muscular DystrophyBecker Muscular Dystrophy1 more

The purpose of the research study is to evaluate different cardiac measures that are obtained by echocardiographic tests in patients with muscular dystrophy.

Completed4 enrollment criteria

Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

Limb-Girdle Muscular Dystrophy

The objective of this study is to identify and maintain a registry of well-characterized limb-girdle muscular dystrophy (LGMD) patients. Patients seen as part of this study may be candidates for future treatment trials based on their defined genetic classification of LGMD. In the course of this study, the investigators will perform a muscle biopsy and DNA testing in an unlimited number of patients with clinically diagnosed LGMD. The genetic testing will be extended to the family of the study subject in order to better understand true genetic defect.

Completed6 enrollment criteria

Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases

Becker Muscular DystrophyMcArdle Disease1 more

The purpose of the study is to explore the biomarker Fast Troponins response to exercise in patients with Becker muscular dystrophy, Limb-girdle muscular dystrophy and McArdle disease

Completed8 enrollment criteria

Cardiac Magnetic Resonance in Children With Muscular Dystrophy

Duchenne Muscular DystrophyBecker Muscular Dystrophy1 more

This protocol will exploit novel state of the art cardiovascular magnetic resonance techniques to examine important changes in the heart in children with muscular dystrophy. The purpose of this study is to compare cardiac magnetic resonance (CMR) with the collected cardiac outcome data obtained in protocol: PITT1109 - Cardiac Outcome Measures in Children with Muscular Dystrophy.

Completed13 enrollment criteria

Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I

Becker Muscular DystrophyLimb-Girdle Muscular Dystrophy Type 2I

The purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I. The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI and based on a calculation of muscle strength per cross-sectional area.The findings will be compared with results from non-affected controls. Additionally we want to describe the tongue muscle appearance on T1-weighted MRI.

Completed6 enrollment criteria

MRI and Muscle Involvement in Patients With Mutations in GMPPB

Limb-girdle Muscular Dystrophy

Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types. A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB has been reported. In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.

Completed2 enrollment criteria

Biomarker Development in LGMD2i

Muscular DystrophiesLimb Girdle Muscular Dystrophy

The overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD2i to support therapeutic development.

Completed8 enrollment criteria

MRI on Persons With Mutations in POMT2 Gene (LGMD2N)

Limb-girdle Muscular Dystrophy

POMT2 mutation is known to cause Walker Warburg Syndrome and Muscle-Brain-Eye syndrome. Recently it has been connected to limb girdle muscular dystrophy (LGMD), a disorder characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types. LGMD with POMT2 mutations is a new phenotype - type 2N. Very few patients with the LGMD2N phenotype has been reported. In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.

Completed2 enrollment criteria
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