Study of Inherited Neurological Disorders

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Study ID
NCT00004568
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
2 Years - 120 Years
Healthy Volunteers
Not accepted

Study Details

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 Dates

Start date
Feb 18, 2000
Status verified
Mar 2026

Study Design

Enrollment
3,500 participants (estimated)

Arms

  • Arm: Inherited Neurological Patients
    Includes individuals and families with a known or unknown inherited neurological condition.

Primary Outcome Measure

Genetic disease identification; Deep phenotyping of rare genetic neurological disorders; Training of fellows and students [ Time Frame: Outcome measures assessed at initial visit and ongoing until a genetic diagnosis is made. Duration of study 15 years (per protocol). ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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