Clinical Trial: Study of Inherited Neurological Disorders

This study is currently recruiting patients.

Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: Warren G Magnuson Clinical Center (CC)


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; ataxias; 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.

Motor Neuron Disease
Muscular Disease
Muscular Dystrophy
Peripheral Nervous System Disease

MedlinePlus related topics:  Degenerative Nerve Diseases;   Movement Disorders;   Muscle Disorders;   Muscular Dystrophy;   Neuromuscular Disorders;   Peripheral Nerve Disorders

Study Type: Observational
Study Design: Natural History

Official Title: Clinical and Molecular Manifestations of Inherited Neurological Disorders

Further Study Details: 

Expected Total Enrollment:  1000

Study start: February 4, 2000

Individuals and their families affected by neurological disorders with a potential genetic basis will be the focus of this screening and repository protocol. The goals of the protocol will be to contribute to both the clinical and molecular understanding of inherited neurological disorders. Clinical issues to be addressed will include disease manifestations, natural history, management and psychological/behavioral impact of disease. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with hopes of contributing to the identification of specific genes responsible for disease. It is anticipated that additional protocols will be generated from preliminary data gathered in this study. The study will also facilitate the training of fellows and students in neurology, neuroscience and genetics.


Genders Eligible for Study:  Both


Patients of all ages will be considered for the study. The general health and well being of each potential participant must be sufficient to allow for travel to the NIH, blood drawing, and as indicated, skin or muscle biopsy, pulmonary and cardiac evaluations, physical therapy assessments, and magnetic resonance imaging.
In particular, families with more than one affected relative or families with known consanguinity will be sought, as the incidence of a recessive disorder is increased in such a setting.
Subjects without a suspected inherited neurological disorder will be excluded from this study.

Location and Contact Information

      National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting
Patient Recruitment and Public Liaison Office  1-800-411-1222 
TTY  1-866-411-1010 

More Information

Detailed Web Page

Study ID Numbers:  000043; 00-N-0043
Record last reviewed:  March 4, 2005
Last Updated:  March 29, 2005
Record first received:  February 11, 2000 Identifier:  NCT00004568
Health Authority: United States: Federal Government processed this record on 2005-04-08

Cache Date: April 9, 2005