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

The study will include 120 participants aged 8 and up with Duchenne, Becker, or autosomal recessive limb-girdle (specifically: LGMD 2C-2F and 2I) muscular dystrophies that have no clinical cardiac symptoms. Participants will be randomized to one of four arms: Arm 1 CoQ10 alone, Arm 2 Lisinopril alone, Arm 3 CoQ10 and Lisinopril or Arm 4 No study medication. Randomization will be stratified by ambulatory status and corticosteroid use. The primary outcome for the study is the myocardial performance index (MPI), measured by standard Doppler echocardiography. The study will last 24 months with visits at Months 0.5,1.5, 6, 12, 18 and 24. Following completion of the Clinical Trial of Coenzyme Q10 and Lisinopril, participants will be offered participation in a companion protocol: PITT1215 A Natural History Companion Study to PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies. The objective of this study is to evaluate the longitudinal natural history of DMD, BMD, and LGMD2I and to evaluate the effects of Coenzyme Q10 and/or Lisinopril on prevention of cardiac dysfunction in these disorders.This will be an 18-month longitudinal natural history study designed to accompany the Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies.

The present study is designed to assess the natural history in a one year pre-phase of the trial and evaluate therapeutic efficacy and side effects of deflazacort in LGMD2B/MM patients in a placebo-controlled trial. Furthermore, long-term development of the disease under naturalistic conditions will be documented in a 2-year follow-up after the end of the double-blind treatment phase.

Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.

The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: investigate possible progression of disease over time investigate good and reliable outcome measures

The purpose of this study was to study the effect of stem cell therapy on Limb Girdle Muscular Dystrophy patients.

The purpose of this study was to study the effect of stem cell therapy on the course of the disease in patients with Limb Girdle Muscular Dystrophy.

This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.

Restore a lost function is a special experience for people affected by neuromuscular evolutive diseases. "From the patient's point of view improvement is measured by regaining lost abilities,-by being able to do something -anything-today I couldn't do yesterday ". Upper limb pain, stiffness and activity limitations have a crucial role in reducing patients' autonomy and worsening quality of life. Real users' needs have been identified thought several workshops, and even if the commercial products might assure a benefit to some users and meet most of their requirements, so far a validation of the use of such devices by people with neuromuscular disease is missing. We aim at field-testing the improvement in arm functions provided by the use of some commercial devices and assessing their impact to users' quality of life and independence. This step is essential to assure a widespread accessibility to these devices for most of the potential users, possibly providing health providers with direction and guidance towards Health Technology Assessment. Clinical Trial design - The study proposes on-field validation of JAECO WREX, passive antigravity exoskeleton; and Armon Ayura, motorized arm exoskeleton for gravity compensation in a randomized controlled trial with crossover design. The clinical study will is multi-centric, involving both MEDEA and VALDUCE, and received the Ethical Committee approval.

The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life questionnaires, muscle strength, motor function, routine examination, assessment of patient (or parent) understanding of LGMD, and serum (blood) for growth factors, cytokines, and biomarkers (all parts of your blood). By tracking this information, we hope to be able to understand more about the diagnosis, progression and natural history of this disorder.

The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.