Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004568
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2000-02-11
Brief Title:
Study of Inherited Neurological Disorders
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Molecular Manifestations of Inherited Neurological Disorders
Status:
RECRUITING
Status Verified Date:
2024-02-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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:
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 3500 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
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 3500 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 00-N-0043 | None | None | None |