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NCT00004568From ClinicalTrials.govRecruiting

Study of Inherited Neurological Disorders

Clinical and Molecular Manifestations of Inherited Neurological Disorders

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

At a glance

Phase
Phase not stated
Study type
Observational
Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Enrolment target
3,500
Started
18 February 2000
Main results due
Not stated
Study sites
2
Registry updated
28 September 2026

Can you take part?

  • Ages 2 years to 120 years.
  • Open to any sex.
  • You need the condition being studied — healthy volunteers are not accepted.

These are the headline rules only. Every study has a longer list, and whether you are eligible is decided by the research team at the site — never by this page.

Read the full eligibility criteria
* Participants include those with inherited neurological conditions based on the training and research needs of the Neurogenetics Branch program. There is no logical limit; however, the total number of participants that can be enrolled in the protocol will be restricted. No more than 3,500 participants with either diagnosed or undiagnosed neurological conditions and their unaffected relatives will be enrolled in this evaluation and diagnostic protocol.

INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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.

What this study is about

In the sponsor’s own words, from the registry.

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.

Study sites(2)

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, United States

    Recruiting

  • University of Mali

    Bamako, Mali

    Completed

Showing 2 of 2 sites. 1 of the 2 sites on this study is recruiting right now — a site can stop enrolling while the study as a whole is still open.

Source: ClinicalTrials.gov record NCT00004568. Trialion does not run this study, is not paid to refer anyone to it, and cannot enrol you. Eligibility is always decided by the research team at the site.

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Study of Inherited Neurological Disorders | Trialion