Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Public ClinicalTrials.gov record NCT00302146. 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
Functional Imaging in Subjects With Glucocerebrosidase Mutations
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT00302146
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 64 participants
Conditions and interventions
Conditions
Eligibility (public fields only)
- Age range
- 18 Years to 110 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- May 22, 2006
- Primary completion
- Not listed
- Completion
- Not listed
- Last update posted
- Aug 30, 2026
Started 2006
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 | 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.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00302146, 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 30, 2026 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00302146 live on ClinicalTrials.gov.