TerminatedNot Applicable

Mutations Associated With Parkinson s Disease

United States42 participantsStarted 2012-02-27

Plain-language summary

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.

Who can participate

Age range

18 Years – 80 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

Trial details

NCT IDNCT01547832

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeOBSERVATIONAL

View on ClinicalTrials.gov More Parkinson's Disease trials