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Study of Inherited Neurological Disorders

This study is currently recruiting participants.

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Verified June 13, 2017 by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Sponsor:

ClinicalTrials.gov Identifier:

NCT00004568

First Posted: February 14, 2000

Last Update Posted: July 2, 2017

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.

Information provided by (Responsible Party):

National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Purpose

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.

Condition
Ataxia Motor Neuron Disease Muscular Disease Muscular Dystrophy Peripheral Nervous System Disease


Study Type:	Observational
Official Title:	Clinical and Molecular Manifestations of Inherited Neurological Disorders

Resource links provided by NLM:

Genetics Home Reference related topics: Charcot-Marie-Tooth disease distal hereditary motor neuropathy, type II distal hereditary motor neuropathy, type V

MedlinePlus related topics: Neurologic Diseases

Genetic and Rare Diseases Information Center resources: Muscular Dystrophy Spinocerebellar Ataxia

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):


Estimated Enrollment:	2500
Study Start Date:	February 4, 2000

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 patients 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 swab) will be obtained for future laboratory studies.

STUDY POPULATION

The number of participants to be enrolled will be set to 2,000 patients with neurological diseases and their unaffected relatives.

DESIGN:

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

Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:	2 Years and older (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

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.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004568

Contacts


Contact: Alice B Schindler	(301) 496-8969	schindlerab@mail.nih.gov
Contact: Kenneth H Fischbeck, M.D.	(301) 435-9318	kf@ninds.nih.gov

Locations


United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov
Mali
Department of Neurology of the Teaching Hospital (CHU) of Point G	Recruiting
Bamako, Mali

Sponsors and Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators


Principal Investigator:	Kenneth H Fischbeck, M.D.	National Institute of Neurological Disorders and Stroke (NINDS)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site


Responsible Party:	National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier:	NCT00004568 History of Changes
Other Study ID Numbers:	000043 00-N-0043
First Submitted:	February 11, 2000
First Posted:	February 14, 2000
Last Update Posted:	July 2, 2017
Last Verified:	June 13, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ):


Peripheral Neuropathies Myopathy Muscular Dystrophy	Motor Neuron Disease Spinocerebellar Degeneration Neurological Disorders

Additional relevant MeSH terms:


Muscular Dystrophies Nervous System Diseases Motor Neuron Disease Peripheral Nervous System Diseases Muscular Diseases	Muscular Disorders, Atrophic Musculoskeletal Diseases Neuromuscular Diseases Genetic Diseases, Inborn Neurodegenerative Diseases

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