Akron Children's Hospital
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.
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 participa…
Inclusion Criteria: * • Patient age at time of consent is \<21 years. * Clinically confirmed genetic muscle disease\* with either: * a pathogenic or likely pathogenic variant in a disease-causing gene11, or * a variant of uncertain significance that is considered by the investigators to be potentially causative of the patient's neuromuscular phenotype\*\*. * The identified variant is theoretically amenable to at least one of the following RNA-targeted therapeutic strategies12 described below and based on published guidelines \*\*\*: * ASO-mediated splice modulation through…
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