Bethesda, Maryland 20892


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.


Study summary:

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.


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.


NCT ID:

NCT00004568


Primary Contact:

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

Alice B Schindler
Phone: (301) 496-8969
Email: schindlerab@mail.nih.gov


Backup Contact:

Email: kf@ninds.nih.gov
Kenneth H Fischbeck, M.D.
Phone: (301) 435-9318


Location Contact:

Bethesda, Maryland 20892
United States

For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222
Email: prpl@mail.cc.nih.gov

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: September 25, 2017

Modifications to this listing: Only selected fields are shown, please use the link below to view all information about this clinical trial.


Click to view Full Listing

This study is not currently recruiting Study Participants on ClinicalConnection.com. The form below is not enabled.