Study of Inherited Neurological Disorders
Recruiting now
Conditions studied: Motor Neuron Disease, Muscular Disease, Muscular Dystrophy, Peripheral Nervous System Disease
In brief
This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. It will examine the genetics, symptoms, disease progression, treatment, and psychological and behavioral impact of diseases in the following categories: hereditary peripheral neuropathies; hereditary myopathies; muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; hereditary neurocognitive disorders; inherited neurological disorders without known diagnosis; and others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are rare and poorly understood. Children and adults of all ages with various inherited neurological disorders may be eligible for this study. Participants will undergo a detailed medical and family history, and a family tree will be drawn. They will also have a physical and neurological examination that may include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be taken for genetic testing. Depending on the individual patient s symptoms, imaging tests such as X-rays, CT or MRI scans and muscle and nerve testing may also be done. Information from this study may provide a better understanding of the genetic underpinnings of these disorders, contributing to improved diagnosis, treatment, and genetic counseling, and perhaps leading to additional studies in these areas.
Key facts
- Study ID
- NCT00004568
- Run by
- National Institute of Neurological Disorders and Stroke (NINDS)
- People needed
- 3500
- Starts
- 2000-02-18
- Last updated by the study team
- 2026-07-08
Who can join
Age: 2 and older, up to 120. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Participants will be eligible if they:
- Have either a known or suspected, inherited neurological disease, OR are an unaffected relative (first-, second-, third, or higher degree relative) of a participant with a genetic neurological disease.
- Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or a legal guardian to provide consent for adults without consent capacity.
- Aged 2 years and above.
You may not qualify if…
- Participants will not be eligible if they:
- Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
- University of Mali — Bamako, Mali
Full record on ClinicalTrials.gov
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