Ignite Creation Date:
2024-05-05 @ 5:30 PM
Last Modification Date:
2024-10-26 @ 9:32 AM
Study NCT ID:
NCT00467090
Status:
TERMINATED
Last Update Posted:
2019-12-17
First Post:
2007-04-26
Brief Title:
Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Expanding the Phenotype of the LRRK-2 Mutation in Individuals With History of Parkinson s Disease and Their Relatives a Prospective Study
Status:
TERMINATED
Status Verified Date:
2014-02-03
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 will identify symptoms and other characteristics of Parkinson s disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 LRRK2 Changes in this gene have been found in patients with and without a family history of Parkinson s disease This study will examine people with Parkinson s disease to try to identify how symptoms develop over time First-degree relatives of patients will also be studied
People 18 years of age or older with Parkinson s disease or people who have a first-degree relative with Parkinson s disease may be eligible for this study
Participants visit the NIH Clinical Center every other year for 10 years for some or all of the procedures listed below Each visit requires 3-4 days of testing which may be done on an inpatient or outpatient basis Telephone interviews are conducted during the alternate years
History and physical examination
Smell testing Subjects are asked to identify 40 different scents
Sensory testing Objects with grooves and ridges are touched to subjects fingertips With their eyes closed the subjects are asked to say which way the grooves and ridges run on the objects
Neuropsychological evaluation Subjects are asked about their memory and thinking and may be asked to complete some pen and paper tests
Psychiatric evaluation Subjects are asked about psychiatric symptoms including anxiety and depression
Blood drawing Blood is drawn through a needle in the arm
Magnetic imaging resonance MRI scans of the brain MRI uses a strong magnetic field and radio waves to obtain images of body organs and tissues During the test subjects lie on a table that can slide in and out of the MRI scanner a metal cylinder surrounded by a strong magnetic field The procedure lasts about 30 minutes during which the subjects may be asked to lie still for up to 5 minutes at a time
Transcranial sonography TCS TCS uses sound waves to obtain images of the brain Subjects lie on their back and an ultrasound device is moved around the scalp
Sleep study 1-2 night hospital admission Subjects brain waves are recorded during sleep using electroencephalography EEG Their breathing rate pulse and oxygen level are also monitored
Questionnaire Subjects complete several questionnaires designed to obtain information on symptoms or traits that have been reported to be associated with Parkinson s disease
People 18 years of age or older with Parkinson s disease or people who have a first-degree relative with Parkinson s disease may be eligible for this study
Participants visit the NIH Clinical Center every other year for 10 years for some or all of the procedures listed below Each visit requires 3-4 days of testing which may be done on an inpatient or outpatient basis Telephone interviews are conducted during the alternate years
History and physical examination
Smell testing Subjects are asked to identify 40 different scents
Sensory testing Objects with grooves and ridges are touched to subjects fingertips With their eyes closed the subjects are asked to say which way the grooves and ridges run on the objects
Neuropsychological evaluation Subjects are asked about their memory and thinking and may be asked to complete some pen and paper tests
Psychiatric evaluation Subjects are asked about psychiatric symptoms including anxiety and depression
Blood drawing Blood is drawn through a needle in the arm
Magnetic imaging resonance MRI scans of the brain MRI uses a strong magnetic field and radio waves to obtain images of body organs and tissues During the test subjects lie on a table that can slide in and out of the MRI scanner a metal cylinder surrounded by a strong magnetic field The procedure lasts about 30 minutes during which the subjects may be asked to lie still for up to 5 minutes at a time
Transcranial sonography TCS TCS uses sound waves to obtain images of the brain Subjects lie on their back and an ultrasound device is moved around the scalp
Sleep study 1-2 night hospital admission Subjects brain waves are recorded during sleep using electroencephalography EEG Their breathing rate pulse and oxygen level are also monitored
Questionnaire Subjects complete several questionnaires designed to obtain information on symptoms or traits that have been reported to be associated with Parkinson s disease
Detailed Description:
Parkinson s disease is a common neurological condition that was originally thought to develop from environmental factors More recently genetic factors have been implicated In this study we are interested in studying the phenotypic presentation of patients with Parkinson s disease due to a specific defect in a gene called the Leucine rich repeat kinase 2 gene LRRK2 found in some patients with Parkinson s disease In addition we plan to study family members whose genetic status is unknown to develop a pre-clinical description of Parkinson s disease progression
OBJECTIVE
1 To develop a pre-clinical description in first-degree family members of patients with Parkinson s disease who have the LRRK2 mutation The first-degree relative may or may not carry the LRRK2 mutation
2 To phenotypically characterize Parkinson s disease patients who have the LRRK2 mutation
STUDY POPULATION
200 adult subjects including
1 Patients with a diagnosis of PD due to LRRK2 mutation
2 First degree family members of patients with PD who have the LRRK2 mutation
DESIGN
This will be a longitudinal prospective natural history study
OUTCOME MEASURES
1 Pre-clinical signs of disease in first degree relatives of Parkinson s disease patients who have the LRRK2 mutation
2 Characterization of a pre-clinical phenotype in first degree relatives of LRRK2 positive Parkinson s disease patients
3 Progression of Parkinson s disease patients who have the LRRK2 mutation
4 Genotypic characterization of first-degree relatives
5 RNA expression profile determination comparing mutation carriers to non-mutation carriers in search for early biomarkers
OBJECTIVE
1 To develop a pre-clinical description in first-degree family members of patients with Parkinson s disease who have the LRRK2 mutation The first-degree relative may or may not carry the LRRK2 mutation
2 To phenotypically characterize Parkinson s disease patients who have the LRRK2 mutation
STUDY POPULATION
200 adult subjects including
1 Patients with a diagnosis of PD due to LRRK2 mutation
2 First degree family members of patients with PD who have the LRRK2 mutation
DESIGN
This will be a longitudinal prospective natural history study
OUTCOME MEASURES
1 Pre-clinical signs of disease in first degree relatives of Parkinson s disease patients who have the LRRK2 mutation
2 Characterization of a pre-clinical phenotype in first degree relatives of LRRK2 positive Parkinson s disease patients
3 Progression of Parkinson s disease patients who have the LRRK2 mutation
4 Genotypic characterization of first-degree relatives
5 RNA expression profile determination comparing mutation carriers to non-mutation carriers in search for early biomarkers
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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 |
|---|---|---|---|
| 07-N-0137 | None | None | None |