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| Sponsor: | National Human Genome Research Institute (NHGRI) |
|---|---|
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00302146 |
Purpose
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:
Participants undergo the following tests and procedures:
| Condition |
|---|
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Glucocerebrosidase Mutations Gaucher Disease |
| Study Type: | Observational |
| Official Title: | Functional Imaging in Subjects With Glucocerebrosidase Mutations |
| Estimated Enrollment: | 100 |
| Study Start Date: | March 2006 |
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 glucocerebrosidase (GBA) mutations in subjects with parkinsonism of various ethnicities. Furthermore, there is a significant number of obligate and confirmed Gaucher carriers with parkinsonian manifestations. Thus, alterations in GBA appear to be a more common risk factor than previously thought for the development of sporadic Parkinson disease and related disorders. However, in affected and at-risk individuals, the identification and characterization of early parkinsonian manifestations, and the rate of progression of symptoms have not been studied objectively. We propose an in-vivo study that will employ multiple imaging modalities to better define the phenotype in GBA-associated parkinsonism, follow disease progression, and identify at-risk individuals. The subjects include patients with Gaucher disease and Gaucher carriers with parkinsonian manifestations, and clinically unaffected but at-risk individuals carrying GBA mutations, and have/ a first degree relative with parkinsonism. The control groups consist of individuals with Gaucher disease but no parkinsonian symptoms, relatives of probands without GBA mutations, PD patients without GBA mutations, and healthy volunteers. Positron emission tomography (PET) with 6-[F-18] Fluoro-L-Dopa (6FD) will be used to evaluate presynaptic dopaminergic function, where 6FD uptake in putamen and striatum will be employed as a measure of neuronal structural integrity in substantia nigra. Each subject will be screened with an MRI to rule-out anatomic brain abnormalities, and to further delineate areas of interest in the PET scans. Subjects will also undergo transcranial ultrasonography (TCS) to assess the substantia nigra non-invasively. The results of both the PET scans and TCS will be kept confidential, and will not be communicated to the individuals or families involved in the study. In addition to the imaging studies, all patients will undergo a physical and neurological examination, neurocognitive evaluation, and olfactory testing.
Eligibility| Ages Eligible for Study: | 21 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
The study will include adult subjects age 21 or older carrying GBA mutations. The two major study groups will include subjects with parkinsonism and unaffected subjedcts yet at risk with a first degree family member with parkinsonism.
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.
Healthy Volunteers and Control subjects will be matched for age, gender and handedness for statistical purposes.
EXCLUSION CRITERIA:
The subjects excluded from the study are those:
Contacts and Locations| Contact: Catherine A Groden, C.R.N.P. | (301) 443-8353 | cgroden@mail.nih.gov |
| Contact: Grisel J Lopez, M.D. | (301) 451-1806 | glopez@mail.nih.gov |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov | |
| Principal Investigator: | Grisel J Lopez, M.D. | National Human Genome Research Institute (NHGRI) |
More Information
| Responsible Party: | Peter Herscovitch, M.D./NIH Clinical Center, National Institutes of Health |
| ClinicalTrials.gov Identifier: | NCT00302146 History of Changes |
| Other Study ID Numbers: | 060055, 06-HG-0055 |
| Study First Received: | March 11, 2006 |
| Last Updated: | March 20, 2012 |
| Health Authority: | United States: Federal Government |
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Lysosomal Storage Disorder Carrier L-Dopa Uptake Glucocerebrosidase Pathogenesis Carbidopa |
Gaucher Disease Parkinson Disease [O-15]-Water 6-[F-18]Fluoro-L-dopa Healthy Volunteer HV |
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Gaucher Disease Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases |
Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |