Clinical trial Recruiting at 1 site Observational Ages 2 to 120

Understanding inherited neurological disorders

Official title: Clinical and Molecular Manifestations of Inherited Neurological Disorders

Run by National Institutes of Health Clinical Center (CC) · NCT00004568 · Data updated 2026-11-12

This study is trying to learn more about inherited neurological disorders by looking at the medical history and genetics of people who have or might have these conditions.

Quick facts

Study typeObservational
Ages2 Years to 120 Years
SexAll
Enrollment3500 (estimated)
SponsorNational Institutes of Health Clinical Center (CC)
NIH
Locations2 sites (Bethesda, Maryland and 1 other locations)
StatusRecruiting
StartedFebruary 18, 2000
Registry record updatedOctober 27, 2026
Trial IDNCT00004568 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include individuals of all ages with known or suspected inherited neurological disorders, as well as their unaffected relatives.

Probably not a fit

Patients with non-genetic neurological conditions or those without a family history of inherited neurological disorders may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to explore the natural history and genetic factors of inherited neurological disorders, including various types of muscular and motor neuron diseases. Participants, both diagnosed and undiagnosed, will undergo comprehensive medical evaluations, including family history assessments and genetic testing. The study seeks to create a resource for future research and improve understanding of these rare conditions. By gathering detailed clinical data and biological samples, the research will contribute to the identification of causative mutations and potential new genes associated with these disorders.

Why it matters

Potential benefit: If successful, this study could enhance the understanding and diagnosis of inherited neurological disorders, leading to better management and treatment options for patients.

How similar studies have gone: Other studies focusing on the genetic basis of neurological disorders have shown promise, indicating that this approach could yield valuable insights.

Who can join: the full rules

Show full inclusion / exclusion 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.

Where it's running

  • National Institutes of Health Clinical Center
    Bethesda, Maryland, United States
    Recruiting
  • University of Mali
    Bamako, Mali
    Completed

Study contacts

  • Principal investigator: A. Reghan Foley, M.D. — National Institute of Neurological Disorders and Stroke (NINDS)
  • Study coordinator: Whitney M Spencer
  • Email: whitney.spencer@nih.gov
  • Phone: (301) 402-6668

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.