Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
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|ClinicalTrials.gov Identifier: NCT00302146|
Recruitment Status : Completed
First Posted : March 13, 2006
Last Update Posted : January 26, 2021
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.
|Condition or disease|
|Parkinson Disease Gaucher Disease|
|Study Type :||Observational|
|Actual Enrollment :||64 participants|
|Official Title:||Functional Imaging in Subjects With Glucocerebrosidase Mutations|
|Actual Study Start Date :||May 23, 2006|
Unaffected at-risk individuals with or without a first degree family member with parkinsonism, GD with and without a family history of PD, Gaucher carriers with and without a family history of PD.
Controls will include subjects without GBA mutations, with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease.
Subjects with parkinsonism to better characterize the parkinsonian phenotype (e.g.,GD/PD, Sporadic PD, Gaucher carrier PD).
- Imaging techniques [ Time Frame: Ongoing ]Imaging techniques will evaluate whether there are early changes in cerebral L-Dopa stores associated with glucocerebrosidase mutations in subjects with and without parkinsonism.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00302146
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Grisel J Lopez, M.D.||National Human Genome Research Institute (NHGRI)|