- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01547832
Mutations Associated With Parkinson s Disease
Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease
Background:
- 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.
Objectives:
- To study connections between genetic mutations and EOPD.
Eligibility:
- 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.
Design:
- 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.
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- INCLUSION CRITERIA:
Parkinson s Subjects:
Screening:
- Age 18 years to 80 years old with a history of early onset Parkinson disease (Presentation within the first five decades of life).
- Diagnosis of Parkinson disease or Parkinsonism
- Willingness and legal ability to give and sign informed study consent
Enrollment:
- Mutations in PARK2
- Willingness to travel to NIH for scheduled protocol studies
Control Subjects:
- Age 18 years to 80 years old with no history or family history of Parkinson disease.
- Willingness and legal ability to give and sign informed study consent
- Willingness to travel to NIH for scheduled protocol studies
- Willingness to have blood or tissue samples studied, and potentially stored for future research
EXCLUSION CRITERIA: <TAB>
Parkinson Subjects:
Screening:
- Subjects who are unable or unwilling to sign an informed consent subjects with genetic defects associated with other diseases including other neurologic syndromes.
- Subjects without medically treated diabetes who are unable/unwilling to undergo a glucose tolerance test
Enrollment:
- Pregnancy
Control Subjects
- Subjects who are unable or unwilling to sign an informed consent
- Subjects with genetic defects associated with other diseases including other neurologic syndromes.
- Pregnancy
- Medically treated diabetes
- Unable/unwilling to undergo a glucose tolerance test
Study Plan
How is the study designed?
Design Details
Collaborators and Investigators
Publications and helpful links
General Publications
- Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998 Apr 9;392(6676):605-8. doi: 10.1038/33416.
- Greenamyre JT, Hastings TG. Biomedicine. Parkinson's--divergent causes, convergent mechanisms. Science. 2004 May 21;304(5674):1120-2. doi: 10.1126/science.1098966. No abstract available.
- Shimura H, Hattori N, Kubo Si, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet. 2000 Jul;25(3):302-5. doi: 10.1038/77060.
Study record dates
Study Major Dates
Study Start
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 120084
- 12-H-0084
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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