Study of Inherited Neurological Disorders
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; 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.
Conditions
- Motor Neuron Disease
- Muscular Disease
- Muscular Dystrophy
- Peripheral Nervous System Disease
Eligibility
- Eligible Ages
- Between 2 Years and 120 Years
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
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: -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.
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Family-Based
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Inherited Neurological Patients | Includes individuals and families with a known or unknown inherited neurological condition. |
Recruiting Locations
Bethesda, Maryland 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
800-411-1222
ccopr@nih.gov
More Details
- NCT ID
- NCT00004568
- Status
- Recruiting
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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 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.