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Home > "S" Clinical Trials Conditions > Study of Inherited Neurological Disorders  Study of Inherited Neurological Disorders
Study of Inherited Neurological Disorders
For Condition: Motor Neuron Disease,Muscular Disease,Ataxia,Peripheral Nervous System Disease,Muscular Dystrophy
Status: Recruiting
Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) ,
Synopsis: 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.
Details: 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.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Patients of all ages and their families with known or suspected inherited neurological disorders. Pregnant women will be included except for tests involving radiation or anesthesia. 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. Must be able to return to the NIH at least twice a year on a regular basis.
Total Enrollment: 750
Location and Contact Information:
National Institute of Neurological Disorders and Stroke (NINDS) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 000043; 00-N-0043
Study Start Date: February 4, 2000
Record last reviewed: February 6, 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004568
Other Muscular Dystrophy Studies:
1. Study of Muscle Wasting and Altered Metabolism in Patients with Myotonic Dystrophy
2. Study of Inherited Neurological Disorders
3. Studies of Patients with Skin Disease, Patients with Neurological Degenerations, and Normal Volunteers
Related Studies:
Other Muscular Dystrophy Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Study of Inherited Neurological Disorders
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