Study of Inherited Neurological Disorders

This study aims to learn more about inherited neurological disorders, which are conditions affecting the brain, spinal cord, muscles, and nerves that are passed down through families. Researchers want to understand the genetics, symptoms, how these diseases progress, and their impact on daily life. This is an observational study, meaning no specific treatments are being tested. Instead, the goal is to gather information to help diagnose these conditions and provide a resource for future research. Children and adults aged 2 to 120 years with various inherited neurological conditions, whether diagnosed or undiagnosed, may be able to join. Success for this study means identifying genetic diseases, thoroughly describing rare genetic neurological disorders, and training future medical professionals. The study plans to enroll up to 3,500 participants and is currently unclear on its recruitment status.

Study design: This is an observational study designed to evaluate and diagnose multiple neurological diseases and their underlying causes. It plans to enroll up to 3,500 participants.
What's involved: Participants will have initial visits and ongoing assessments until a genetic diagnosis is made. Blood, urine, saliva, or cheek swabs may be collected for future laboratory studies.
Compensation: Not stated in the trial record.
Follow-up: Outcome measures are assessed at the initial visit and ongoing until a genetic diagnosis is made. The study duration is 15 years.

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Study of Inherited Neurological Disorders

Recruiting

Not specifiedAges 2+Observational

National Institute of Neurological Disorders and Stroke (NINDS)

~3,500 participants

Updated 2026-08-24 on ClinicalTrials.gov

At a glance

Recruiting sites

1 of 2 listed sites are recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Genetic disease identification; Deep phenotyping of rare genetic neurological disorders; Training of fellows and students

Measured over Outcome measures assessed at initial visit and ongoing until a genetic diagnosis is made. Duration of study 15 years (per protocol).

Conditions

Motor Neuron Disease

Muscular Disease

Muscular Dystrophy

Peripheral Nervous System Disease

Where it's being run

2 sites across 2 states

Maryland1

Mali1

Study leadership

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

Who to contact

Alice B Schindler

[email protected]

(301) 496-8969

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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 trial measures

Genetic disease identification; Deep phenotyping of rare genetic neurological disorders; Training of fellows and studentsOutcome measures assessed at initial visit and ongoing until a genetic diagnosis is made. Duration of study 15 years (per protocol).
The primary objective of this protocol is to provide a resource of participants for enrollment into new research protocols throughout the NGB and other NIH laboratories. Evaluating and diagnosing participants will allow the NGB specialists to maintain their expertise and gain additional knowledge of the course of various neurological disorders. The information obtained will allow for the evaluation and diagnosis of the studied neurological diseases. This understanding may lead to ideas for future protocols. In some cases, blood or other biologic samples (including urine, saliva, or a cheek (buccal) swab) will be obtained for future laboratory studies. No formal outcomes will be measured; however, the clinical assessments of enrolled participants can be used to characterize the disease manifestations.

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