Mutations Associated With Parkinson s Disease
Public ClinicalTrials.gov record NCT01547832. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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 identification
- NCT ID
- NCT01547832
- Recruitment status
- Terminated
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 42 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 18 Years to 80 Years
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Feb 26, 2012
- Primary completion
- Not listed
- Completion
- Aug 26, 2018
- Last update posted
- Aug 28, 2018
2012 – 2018
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
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About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01547832, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 28, 2018 · Synced Sep 9, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01547832 live on ClinicalTrials.gov.