Study of Inherited Neurological Disorders

Clinical and Molecular Manifestations of Inherited Neurological Disorders

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 Overview

• Status: Recruiting
• Conditions: Motor Neuron Disease; Muscular Dystrophy; Peripheral Nervous System Disease; Muscular Disease

Detailed Description

The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate and provide genetic diagnosis to participants with various diagnosed and undiagnosed neurological conditions.

OBJECTIVES:

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.

STUDY POPULATION

The number of participants to be enrolled will be set to 3,500 participants with neurological diseases and their unaffected relatives.

DESIGN:

This is an observational diagnostic study of multiple neurological diseases and their pathophysiology.

OUTCOME MEASURES:

No formal outcomes will be measured; however the clinical assessments of enrolled participants can be used to characterize the disease manifestations. In addition, DNA samples obtained may be used to identify and verify causative mutations as well as identify novel genes, which may help establish pathogenic mechanisms and genotype-phenotype correlations.

• Study Type: Observational
• Enrollment (Estimated): 3500

Contacts and Locations

• Study Contact: Name: Christopher Grunseich, M.D.; Phone Number: (301) 402-5423; Email: grunseichc@mail.nih.gov
• Study Contact Backup: Name: Alice B Schindler; Phone Number: (301) 496-8969; Email: schindlerab@mail.nih.gov

Study Locations

• Mali
  • Bamako, Mali
    • Completed
    • University of Mali
• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY dial 711 800-411-1222; Email: ccopr@nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

general population

Description

• 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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Inherited Neurological Patients; Includes individuals and families with a known or unknown inherited neurological condition.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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).

Collaborators and Investigators

• Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)
• Investigators: Principal Investigator: Christopher Grunseich, M.D., National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): February 18, 2000

Study Registration Dates

• First Submitted: February 11, 2000
• First Submitted That Met QC Criteria: February 11, 2000
• First Posted (Estimated): February 14, 2000

Study Record Updates

• Last Update Posted (Actual): April 14, 2026
• Last Update Submitted That Met QC Criteria: April 11, 2026
• Last Verified: March 13, 2026

More Information

Terms related to this study

• Keywords: Motor Neuron Disease; Muscular Dystrophy; Myopathy
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Muscular Disorders, Atrophic; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Peripheral Nervous System Diseases; Muscular Dystrophies; Muscular Diseases; Motor Neuron Disease
• Other Study ID Numbers: 000043; 00-N-0043

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No