RecruitingNCT01568658

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood


Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Enrollment

9,300 participants

Start Date

Mar 20, 2012

Study Type

OBSERVATIONAL

Conditions

Summary

Background: \- Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers. Objectives: \- To better understand nerve and muscle disorders that start early in life and run in families. Eligibility: * Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset. * Affected and unaffected family members of the individuals with muscular and nerve disorders. * Healthy volunteers at least 4 weeks old with no nerve or muscle disorders. Design: * Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected. * Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants. * All participants with nerve and muscle disorders will have multiple tests, including the following: * Imaging studies of the muscles, including ultrasound and MRI scans. * Imaging studies of the bones, such as x-rays and DEXA scans. * Heart and lung function tests. * Eye exams. * Nerve and muscle electrical activity tests and biopsies. * Video and photo image collection of affected muscles. * Speech, language, and swallowing evaluation. * Lumbar puncture to collect spinal fluid for study. * Tests of movement, attention, thinking, and coordination. * Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.


Eligibility

Min Age: 1 DayMax Age: 100 Years

Plain Language Summary

Simplified for easier understanding

This study collects genetic and medical information from children and families affected by hereditary nerve and muscle diseases (neuromuscular and neurogenetic disorders) to better understand their causes and find better treatments. You may be eligible if: - You are 4 weeks of age or older and have a documented personal or family history of a childhood-onset hereditary neurological or neuromuscular disorder - You are an unaffected family member (parent, sibling, grandparent, aunt, uncle, cousin) related by blood to someone enrolled - You are a healthy volunteer aged 5 years or older without any neurological condition who is willing to undergo MRI without sedation You may NOT be eligible if: - You are unwilling or unable to be examined - You are a minor without a parent or guardian who can provide consent - You are an adult who cannot provide your own consent and have not appointed a legal representative - Healthy volunteers: you have metal in your body that is not MRI-safe, claustrophobia, a history of a neurological condition, or are pregnant Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

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NCT01568658


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