Clinical Research Directory

Personalized Disease Modeling for Rare Genetic Myopathies

The goal of this observational study is to learn how rare genetic muscle diseases change over time and whether muscle cells grown from a participant's blood can help researchers understand the disease. The study will include children and young adults under age 21 with a genetic muscle disease and a rare genetic change that may be suitable for a future personalized treatment. The main questions are: How do each participant's muscle strength, movement, and health change over time? Can muscle cells grown from a participant's blood show how their genetic change affects muscle? For some participants, can a potential treatment improve those cells in the laboratory? Participants will be followed for approximately 2 years. Researchers will review their health, measure muscle function, and ask participants and caregivers about quality of life. Assessments may also include blood tests, muscle ultrasound, muscle MRI without sedation, optional nerve and muscle electrical measurements, and ankle-worn movement sensors for participants who walk. Researchers will use a blood sample to grow muscle cells in the laboratory to better understand how a muscle condition develops and what potential treatments might work.

VirtualPark_Pediatric

The goal of this clinical trial is to assess the effects of a dual-task, multimodal training program on slowing functional motor decline in children and adolescents with neuromuscular disorders. The main questions it aims to answer are: Does Virtual Park slow functional motor decline in children and adolescents with neuromuscular diseases compared with standard therapy? Does Virtual Park contribute to increased engagement and improved neuropsychological function? If there is a comparison group, Researchers will compare dual-task cycling supported by the Virtual Park application to standard therapy to see whether it improves motor and neuropsychological functions and engagement. Participants will undergo two phases: * Phase 1: 3 months of standard therapy; * Phase 2: 3 months of experimental conditions in which patients undergo a rehabilitative intervention with Virtual Park, 3 times a week.

Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies

The study aims to find out if a specific blood molecule called miR-1, can be used as a biomarker to track the health of patients with certain muscle diseases. MicroRNAs (miRs) are small messengers that help control how cells grow and stay healthy. Some of these, like miR-1, are specifically found in muscles and the heart. Research shows that levels of miR-1 are often abnormal in people with muscle-wasting conditions, but more information are needed to understand how this relates to the severity of the disease. The main goal is to compare the blood levels of miR-1 between four different groups at different ages and severities: 1. Patients with Duchenne or Becker muscular dystrophy (DMD/DMB). 2. Patients with Myotonic Dystrophy Type 1 (Steinert's disease). 3. Patients with congenital myopathies. 4. Healthy volunteers (control group). The main objective is to assess if miR-1 levels can accurately show how a muscular disease is progressing.

Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies

The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.