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Study of Inherited Neurological Disorders

NCT00004568 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 3500

Last updated 2026-04-14

No results posted yet for this study

Summary

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.

Conditions

  • Motor Neuron Disease
  • Muscular Disease
  • Muscular Dystrophy
  • Peripheral Nervous System Disease

Sponsors & Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

    lead NIH

Principal Investigators

  • Christopher Grunseich, M.D. · National Institute of Neurological Disorders and Stroke (NINDS)

Eligibility

Min Age
2 Years
Max Age
120 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2000-02-18

Countries

  • United States
  • Mali

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00004568 on ClinicalTrials.gov