Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3500 participants
OBSERVATIONAL
2000-02-18
Brief Summary
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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.
Detailed Description
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OBJECTIVES:
The primary objective of this protocol is to provide a resource of participants 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 (buccal) swab) will be obtained for future laboratory studies.
STUDY POPULATION
The number of participants to be enrolled will be set to 3,500 participants with neurological diseases and their unaffected relatives.
DESIGN:
This is an observational diagnostic study of multiple neurological diseases and their 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.
Conditions
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Keywords
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Study Design
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FAMILY_BASED
OTHER
Study Groups
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Inherited Neurological Patients
Includes individuals and families with a known or unknown inherited neurological condition.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* 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
-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.
2 Years
120 Years
ALL
No
Sponsors
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National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Responsible Party
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Principal Investigators
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Christopher Grunseich, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Institute of Neurological Disorders and Stroke (NINDS)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
University of Mali
Bamako, , Mali
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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00-N-0043
Identifier Type: -
Identifier Source: secondary_id
000043
Identifier Type: -
Identifier Source: org_study_id