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Active clinical trials for "Muscular Dystrophy, Facioscapulohumeral"

Results 31-40 of 57

Study of Testosterone and rHGH in FSHD

Facioscapulohumeral Muscular Dystrophy

The purpose of this study is to investigate the safety and tolerability of combination therapy with recombinant human growth hormone (rHGH) and testosterone in adult male patients with facioscapulohumeral muscular dystrophy (FSHD) over 24 weeks.

Completed23 enrollment criteria

Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD

Facio-Scapulo-Humeral DystrophyFSHD21 more

This multi-centre, randomised, double-blind, placebo-controlled crossover trial will compare changes in strength-related motor function following treatment with creatine monohydrate to treatment with placebo, as measured by the Motor Function Measure, from baseline to 12 weeks. Eligible subjects will undergo baseline assessments then will be randomised to either creatine monohydrate therapy or placebo for three months, followed by a six week wash-out period, then crossover to a further three months of therapy with either placebo or creatine. Subjects will undergo clinical assessments and study safety assessments at the beginning and end of each treatment period. The study will begin recruitment in early 2017.

Completed7 enrollment criteria

Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular...

Facioscapulohumeral Muscular Dystrophy

The purpose of this study is to assess the safety and tolerability profile of ATYR1940 in the treatment of adult participants with molecularly defined genetic muscular dystrophies.

Completed10 enrollment criteria

Evaluate Safety and Biological Activity of ATYR1940 in Participants With Limb Girdle Muscular Dystrophy...

Limb-Girdle Muscular DystrophiesFacioscapulohumeral Muscular Dystrophy

The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with LGMD2B and FSHD.

Completed18 enrollment criteria

Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Participants...

Facioscapulohumeral Muscular Dystrophy (FSHD)

The purpose of this study is to assess the safety and tolerability profile of ATYR1940 in the treatment of adult participants with molecularly defined genetic muscular dystrophies

Completed30 enrollment criteria

Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy...

Facioscapulohumeral Muscular Dystrophy

The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.

Active4 enrollment criteria

Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics

Facioscapulohumeral Muscular Dystrophy

The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown. The reasons underlying its significant clinical heterogeneity, incomplete penetrance, and sex specific differences in the age of onset, are not currently understood. While metabolic changes associated with this disease have so far deserved little attention, recent studies have pinpointed significant metabolic dysregulation as an emerging driving mechanism in the pathophysiology of this untreatable disease. To test this hypothesis, we will perform a deep metabolic phenotyping in a large cohort of highly clinically characterized FSHD patients at different stage of disease and age/sex-matched controls by state-of-art plasma metabolomic and mitochondrial biomarker profiling. These data will allow attributing specific metabolomic signatures to different stages of the disease in each sex. Metabolic pathway analysis will allow gaining insights into the type of metabolic dysregulation associated with the disease pathogenesis, leading to the identification of targeted metabolic/nutritional interventions and biomarker discovery.

Not yet recruiting8 enrollment criteria

High Intensity Training in Patients With Facioscapulohumeral Muscular Dystrophy

FSHD - Facioscapulohumeral Muscular Dystrophy

The investigators aim to investigate the effect of high-intensity training in patients with facioscapulohumeral muscular dystrophy. Can patients benefit from this type of exercise without muscle damage.

Completed7 enrollment criteria

Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy...

Facioscapulohumeral Muscular Dystrophy

On the basis of published data and the investigators' results indicating that oxidative stress may contribute to the peripheral skeletal muscle dysfunction in patients with FSHD, the investigators propose a study to test whether or not an antioxidant supplementation has a therapeutic interest for patients with FSHD. Their results have important implications for the successful implementation of rational antioxidant therapy in FSHD in which cell loss could be linked to oxidative stress.

Completed9 enrollment criteria

Evaluation of a Textile Scapula Orthosis

Muscular DystrophiesScapular Dyskinesis5 more

Shoulder instability due to muscle weakness is a common problem in disorders of the upper extremities. During arm motion, the scapula acts as a dynamic base for the humeral head. To safely move the shoulder with an exoskeleton for the upper extremities a textile orthosis was developed that stabilizes the scapula against the thorax. The support level of the orthosis is continuously manually adjustable. To test the feasibility of our design and to improve the functionality of the textile orthosis, it needs to be investigated how the orthosis acts on people affected by shoulder instability. The investigators seek to explore how people with shoulder instability respond to the orthosis, and how they may benefit from the orthosis function. Therefore, the range of motion of arm elevation will be compared in different conditions: (i) without any support, (ii) with the support of a trained therapist, and (iii) when the device is engaged at the individual's optimal support level. Additionally, pilot tests will be performed to fix different parameters in our study protocol, such as the the optimal orthosis stiffness level and the ideal number of movement repetitions.

Completed15 enrollment criteria
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