Understanding inherited neurological disorders

Clinical and Molecular Manifestations of Inherited Neurological Disorders

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 type: Observational
• Enrollment: 3500 (estimated)
• Ages: 2 Years to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 2 sites (Bethesda, Maryland and 1 other locations)
• Trial ID: NCT00004568 on ClinicalTrials.gov

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.

Who should consider this trial

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

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.

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

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.

Where this trial is running

Bethesda, Maryland and 1 other locations

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
• University of Mali — Bamako, Mali (COMPLETED)

Study contacts

• Principal investigator: Christopher Grunseich, M.D. — National Institute of Neurological Disorders and Stroke (NINDS)
• Study coordinator: Alice B Schindler

Conditions: Motor Neuron Disease, Muscular Disease, Muscular Dystrophy, Peripheral Nervous System Disease, Myopathy