Mutations Associated With Parkinson s Disease
|ClinicalTrials.gov Identifier: NCT01547832|
Recruitment Status : Completed
First Posted : March 8, 2012
Last Update Posted : May 18, 2018
- Early-onset Parkinson's disease (EOPD) is more likely to be caused by gene mutations than Parkinson's disease that develops in older people. Studying these mutations may help find therapies for EOPD. Researchers want to study mutations on a gene called PARK2. These mutations prevent fat uptake into cells and may interfere with normal brain function. Researchers want to study fat and cholesterol in the body to look at the effects of these mutations on the body and brain.
- To study connections between genetic mutations and EOPD.
- Individuals between 18 and 80 years of age with EOPD.
- Individuals between 18 and 80 years of age with no family history of Parkinson s disease.
- Participants will be screened with a physical exam and medical history. Blood and urine samples will also be collected.
- Participants will have some or all of the following tests:
- Blood samples and tissue (skin and fat) biopsies
- Cell line development from these tissue samples to study the function of PARK2
- DEXA scan to measure body fat context using low dose x-rays
- Glucose and insulin tolerance testing to measure blood sugar levels.
- Treatment will not be provided as part of this protocol.
|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||42 participants|
|Official Title:||Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease|
|Study Start Date :||February 27, 2012|
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01547832
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Michael N Sack, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|