Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations (NCT00302146) | Clinical Trial Compass
CompletedNot Applicable
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
United States64 participantsStarted 2006-05-23
Plain-language summary
This study will use positron emission tomography (PET) to compare how people with Gaucher disease or Gaucher disease carriers with parkinsonism, and their family members, use dopamine in their brains in comparison with healthy normal volunteers and people who have Parkinson disease. PET assesses organ function by measuring metabolism. In this study, magnetic resonance imaging (MRI) is used in conjunction with PET to help better interpret and understand the information gleaned from PET.
People 21 years of age and older with the following conditions may be eligible for this study:
* Gaucher disease and parkinsonism
* Parkinsonism and a family history of Gaucher disease
* Gaucher disease and a family history of parkinsonism
* Gaucher disease carriers who have parkinsonism or a family history of parkinsonism
* Unaffected people with a family history of Gaucher disease and parkinsonism
* Healthy volunteers
Participants undergo the following tests and procedures:
* Personal and family medical history
* Physical examination
* PET scan: The subject lies on a table that slides into the PET scanner until his or her head is positioned properly in the scanner. A catheter is inserted into a vein. An initial scan is done to obtain images before radionuclides are injected. Radioactive water is then injected through the catheter and the subject is asked questions in order to stimulate blood flow in certain areas of the brain to show what parts of the brain are activated. Fluorodopa is then infused through the catheter over 3 minutes. The PET scan can last up to 2 hours.
* MRI scan: This test uses a magnetic field and radio waves to obtain images of organs. The subject lies still on a bed in the middle of a circular scanner for about 30 minutes.
Who can participate
Age range
18 Years – 110 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.
Exclusion criteria
. with severe cognitive deficits impairing decision making at time of enrollment without an appointed surrogate decision maker.
. who are unable or it is medically unsafe to withdraw from their current medications, such as subjects on psychoactive medications. The subjects on medications that may affect CNS function may be included in the study only with an approval from the prescribing physician to discontinue their medications temporarily for the study.
. pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
. with a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinsonian manifestations, including subjects with deep brain stimulators
. cannot lie on his/her back for a prolonged period of time
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.
1This trial used PET imaging to study people with Gaucher mutations who also have Parkinson's disease — can you explain how having a GBA gene mutation might be connected to my Parkinson's risk or diagnosis?
2Since this study is already completed, has any of the PET imaging data from this trial produced findings that might be relevant to how you'd monitor or manage my condition?
3The trial focused on imaging techniques rather than testing a treatment — does that mean participation wouldn't have changed my treatment, and are there follow-up studies building on this one that might offer more direct benefit?
4Given that this trial looked at both Gaucher disease and Parkinson's disease together, should I be tested for GBA gene mutations if I haven't been already, and how might those results affect my care plan?
5Are there other ongoing studies or clinical options related to GBA mutations and Parkinson's disease that you'd recommend I look into, now that this particular trial has already been completed?
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.
What they're measuring
1
Imaging techniques
Timeframe: Ongoing
Trial details
NCT IDNCT00302146
SponsorNational Human Genome Research Institute (NHGRI)