Study of Inherited Neurological Disorders

NCT00004568 | Recruiting

• 2 other identifiers: 00004300-N-0043
• Study Type: observational
• Target: 3,500
• Locations: 2 countries
• Sites: 2

Brief Summary

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.

Conditions

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

Keywords

Myopathy; Muscular Dystrophy; Motor Neuron Disease

Outcome Measures

Primary Outcomes (1)

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

  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.

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

Study Arms (1)

Inherited Neurological Patients

Includes individuals and families with a known or unknown inherited neurological condition.

Eligibility Criteria

• Age: 2 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

general population

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (2)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

University of Mali

Bamako, Mali

COMPLETED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Motor Neuron Disease; Muscular Diseases; Muscular Dystrophies; Peripheral Nervous System Diseases

Condition Hierarchy (Ancestors)

Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Musculoskeletal Diseases; Muscular Disorders, Atrophic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Christopher Grunseich, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alice B Schindler

CONTACT

(301) 496-8969; schindlerab@mail.nih.gov

Christopher Grunseich, M.D.

CONTACT

(301) 402-5423; grunseichc@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 11, 2000
• First Posted: February 14, 2000
• Study Start: February 18, 2000
• Last Updated: April 14, 2026

Record last verified: 2026-03-13

Data Sharing

• IPD Sharing: Will not share

Locations

MA (1); US (1)