Status:
COMPLETED
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Parkinson Disease
Gaucher Disease
Eligibility:
All Genders
18-110 years
Brief 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 ...
Detailed Description
An association between Gaucher disease and parkinsonism has been demonstrated by the concurrence of parkinsonian manifestations in patients with Gaucher disease and an increased incidence of glucocere...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- The study will include adult subjects age 21 or older. There will be two major study groups. The first will include subjects with parkinsonism to better characterize the parkinsonian phenotype and the second group will have unaffected yet at-risk individuals with or without a first degree family member with parkinsonism to explore early signs and symptoms of disease.
- Control subjects will include individuals without GBA1 mutations. Subjects with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease will be enrolled as control subjects.
- Healthy volunteers and control subjects with parkinsonism will be matched for age, gender and handedness for statistical purposes. When available, we would like to study unaffected siblings (without GBA1 mutations) of parkinsonian subjects. Sib-pair studies will especially be valuable to exclude both environmental and other genetic risk factors for the development of parkinsonian manifestations.
- EXCLUSION CRITERIA:
- Subjects excluded from the study include those:
- 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
Exclusion
Key Trial Info
Start Date :
May 23 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
Estimated Enrollment :
64 Patients enrolled
Trial Details
Trial ID
NCT00302146
Start Date
May 23 2006
Last Update
January 8 2026
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892