Ignite Creation Date:
2024-05-05 @ 4:44 PM
Last Modification Date:
2024-10-26 @ 9:23 AM
Study NCT ID:
NCT00302146
Status:
COMPLETED
Last Update Posted:
2024-07-15
First Post:
2006-03-11
Brief Title:
Positron Emission Tomography PET Imaging in People With Gaucher Mutations
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Functional Imaging in Subjects With Glucocerebrosidase Mutations
Status:
COMPLETED
Status Verified Date:
2024-05-24
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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
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
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 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 comprehensively and longitudinally This in-vivo study employs multiple imaging modalities to better define the phenotype in GBA1-associated parkinsonism follow disease progression and identify at-risk individuals The subjects include patients with Gaucher disease and Gaucher carriers with parkinsonian manifestations In addition clinically unaffected but at-risk individuals carrying GBA mutations with and without a family history of parkinsonism will also be included The control groups consist of individuals with Gaucher disease but no parkinsonian symptoms and relatives of probands without GBA mutations as well as PD patients without GBA mutations and healthy volunteers enrolled in NIMH clinical protocols Positron emission tomography PET with 6-F-18 Fluoro-L-Dopa 6FD is used to evaluate presynaptic dopaminergic function where 6FD uptake in putamen and striatum is employed as a measure of neuronal structural integrity in the substantia nigra H2 15O PET is used to evaluate changes in resting regional cerebral blood flow rCBF associated with regional changes in cortical synaptic activity and metabolism Each subject is screened with an MRI to rule-out anatomic brain abnormalities and to further delineate areas of interest in the PET scans Subjects also undergo transcranial ultrasonography TCS to assess the substantia nigra 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 olfactory testing and will be surveyed for potential non- motor manifestations
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
True
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 06-HG-0055 | None | None | None |