Study of Inherited Neurological Disorders : Clinical and Molecular Manifestations of Inherited Neurological Disorders
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 POPULATIONThe 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..
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Klinische Studie| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
ClinicalTrials.gov - (2024) vom: 29. März Zur Gesamtaufnahme - year:2024 |
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| Sprache: |
Englisch |
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| Links: |
Volltext [kostenfrei] |
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| Anmerkungen: |
Source: Link to the current ClinicalTrials.gov record., First posted: February 14, 2000, Last downloaded: ClinicalTrials.gov processed this data on April 03, 2024, Last updated: April 03, 2024 |
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| Study ID: |
NCT00004568 |
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| Veröffentlichungen zur Studie: |
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| PPN (Katalog-ID): |
CTG000086320 |
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| 500 | |a Source: Link to the current ClinicalTrials.gov record., First posted: February 14, 2000, Last downloaded: ClinicalTrials.gov processed this data on April 03, 2024, Last updated: April 03, 2024 | ||
| 520 | |a 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 POPULATIONThe 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. | ||
| 650 | 2 | |a Muscular Dystrophies | |
| 650 | 2 | |a Muscular Diseases | |
| 650 | 2 | |a Nervous System Diseases | |
| 650 | 2 | |a Motor Neuron Disease | |
| 650 | 2 | |a Amyotrophic Lateral Sclerosis | |
| 650 | 2 | |a Peripheral Nervous System Diseases | |
| 650 | 4 | |a Study Type: Observational | |
| 650 | 4 | |a Recruitment Status: Recruiting | |
| 650 | 4 | |a 610 | |
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