Protocol Details

Clinical and Molecular Manifestations of Inherited Neurological Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	00-N-0043
Sponsoring Institute	National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Peripheral Neuropathies; Myopathy; Muscular Dystrophy; Motor Neuron Disease; Spinocerebellar Degeneration
Recruitment Keyword(s)	Neurological Disorders
Condition(s)	Ataxia; Motor Neuron Disease; Muscular Disease; Muscular Dystrophy; Peripheral Nervous System Disease
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Neurological Disorders and Stroke

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.

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Eligibility

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 2,000 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:

-Are unwilling or unable to be followed as clinically indicated.

-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.

INCLUSION CRITERIA FOR MALI:

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 FOR MALI:

-Participants will not be eligible if they:

-Are unwilling or unable to be followed as clinically indicated.

-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.

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Citations:

Not Provided

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Contacts:

Principal Investigator	Referral Contact	For more information:
Kenneth H. Fischbeck, M.D. National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health 35 CONVENT DR BG 35 RM 2A1000 MSC 3705 BETHESDA MD 20892-3705 (301) 435-9318 kf@ninds.nih.gov	Alice B. Schindler National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health Building 10 Room 5S219 10 Center Drive Bethesda, Maryland 20892 (301) 496-8969 schindlerab@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00004568

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