Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00018889
Status:
RECRUITING
Last Update Posted:
2024-05-28
First Post:
2001-07-07
Brief Title:
PhenotypeGenotype Correlations in Movement Disorders
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
PhenotypeGenotype Correlations in Movement Disorders
Status:
RECRUITING
Status Verified Date:
2024-05-23
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:
The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms Studies of inherited movement disorders in large families with good genealogical records are especially valuable Patients with diseases of known molecular basis will be genotyped in order to investigate phenotypegenotype correlation Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder
Detailed Description:
Objective The primary objective of this study is to perform phenotypic and genotypic characterizations of patients and family members with a known or suspected diagnosis of a movement disorder and screen for eligibility to participate in other movement disorder related protocols
14-N-0086 Deep brain stimulation therapy in movement disorders
11-N-0211 Deep brain stimulation surgery for movement disorders
93-N-0202 Diagnosis and natural history protocol for patients with different neurological conditions
000865 Natural history of movement disorders
00-N-0043 Clinical and molecular manifestations of inherited neurologic disorders
03-AG-N-329 NIA The genetic characterization of movement disorders and dementias
20M0082 Phase 1 Study PET Imaging of Cyclooxygenases in Neurodegenerative Brain Disease Institute NIMH
18-N-0140 Clinical Laboratory Evaluation of Chronic Autonomic Failure
The secondary goals of this protocol are to learn more about genetic causes of movement disorders and their phenotypic associations identify patients and families with inherited movement disorders evaluate disease manifestations to establish an accurate clinical diagnosis and to investigate the underlying molecular mechanisms Studies of inherited movement disorders in large families with well-documented genealogical records are especially valuable The study will also assess a series of exploratory peripheral biomarkers including but not limited to those delineated by DNA RNA protein andor metabolite alterations in an effort to more accurately predict those with or at risk of having the specific neurological disease
Study population Subjects older than 2 years old with movement disorders and their family members will be enrolled Patients with diseases of known molecular basis will be genotyped in order to investigate phenotypegenotype correlations Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms andor peripheral bio-signatures involved in a particular disorder
Design
This is an observational diagnostic study of movement disorders and their progression and pathophysiology
Outcome measures Determination of phenotypegenotype correlations in specific movement disorders referral of patients andor family members for participation in other NIH studies gene identification if not known gene expression and protein metabolite and nucleic acid levels collection of blood cells and generation of induced pluripotent stem cell lines and establishment of a clinical diagnosis when possible
14-N-0086 Deep brain stimulation therapy in movement disorders
11-N-0211 Deep brain stimulation surgery for movement disorders
93-N-0202 Diagnosis and natural history protocol for patients with different neurological conditions
000865 Natural history of movement disorders
00-N-0043 Clinical and molecular manifestations of inherited neurologic disorders
03-AG-N-329 NIA The genetic characterization of movement disorders and dementias
20M0082 Phase 1 Study PET Imaging of Cyclooxygenases in Neurodegenerative Brain Disease Institute NIMH
18-N-0140 Clinical Laboratory Evaluation of Chronic Autonomic Failure
The secondary goals of this protocol are to learn more about genetic causes of movement disorders and their phenotypic associations identify patients and families with inherited movement disorders evaluate disease manifestations to establish an accurate clinical diagnosis and to investigate the underlying molecular mechanisms Studies of inherited movement disorders in large families with well-documented genealogical records are especially valuable The study will also assess a series of exploratory peripheral biomarkers including but not limited to those delineated by DNA RNA protein andor metabolite alterations in an effort to more accurately predict those with or at risk of having the specific neurological disease
Study population Subjects older than 2 years old with movement disorders and their family members will be enrolled Patients with diseases of known molecular basis will be genotyped in order to investigate phenotypegenotype correlations Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms andor peripheral bio-signatures involved in a particular disorder
Design
This is an observational diagnostic study of movement disorders and their progression and pathophysiology
Outcome measures Determination of phenotypegenotype correlations in specific movement disorders referral of patients andor family members for participation in other NIH studies gene identification if not known gene expression and protein metabolite and nucleic acid levels collection of blood cells and generation of induced pluripotent stem cell lines and establishment of a clinical diagnosis when possible
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 |
|---|---|---|---|
| 01-N-0206 | None | None | None |