Ignite Creation Date:
2024-05-05 @ 12:07 PM
Last Modification Date:
2024-10-26 @ 9:20 AM
Study NCT ID:
NCT00246870
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2005-10-29
Brief Title:
PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Status:
COMPLETED
Status Verified Date:
2010-10-19
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 brain imaging to map brain cell receptors for a chemical called GABA a chemical that inhibits the activities of nerve cells The study includes patients with succinic semialdehyde dehydrogenase deficiency or SSADH a disorder in which an enzyme deficiency disrupts GABA metabolism their parents and healthy volunteers SSADH deficiency causes various neurological and neuromuscular problems including mild to severe mental retardation delays in the acquisition of skills requiring the coordination of mental and physical activities psychomotor retardation delays in language and speech development and other symptoms
Healthy volunteers 18-55 years of age patients with SSADH between 5 and 24 years of age and parents of patients 18-55 years of age may be eligible for this study
Participants undergo magnetic resonance imaging MRI and positron emission tomography PET scanning as follows
Magnetic resonance imaging
MRI uses a magnetic field and radio waves to produce images of body tissues and organs For this procedure the subject lies on a table that is moved into the scanner a narrow metal cylinder surrounded by a magnetic field wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process Scanning time varies from 20 minutes to 3 hours with most scans lasting between 45 and 90 minutes Participants may be asked to lie still for up to 90 minutes at a time In addition to standard MRI participants may also have new types of MRI that may detect brain abnormalities when regular MRI is normal such as diffusion tensor MRI and magnetic resonance spectroscopy There are no noticeable differences from ordinary MRI scans
Positron Emission Tomography
A catheter plastic tube is placed in a vein in the subjects wrist The subject lies on a table with his or her head placed in the scanner A mask used to help keep the head still in the scanner is placed over the head The mask is not uncomfortable and has holes for the subject to see through A radioactive compound called flumazenil is injected into a vein The scan takes about 90 minutes
Some children need to be sedated for PET or MRI scans In these cases chloral hydrate a standard drug for pediatric diagnostic procedures is used
Healthy volunteers 18-55 years of age patients with SSADH between 5 and 24 years of age and parents of patients 18-55 years of age may be eligible for this study
Participants undergo magnetic resonance imaging MRI and positron emission tomography PET scanning as follows
Magnetic resonance imaging
MRI uses a magnetic field and radio waves to produce images of body tissues and organs For this procedure the subject lies on a table that is moved into the scanner a narrow metal cylinder surrounded by a magnetic field wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process Scanning time varies from 20 minutes to 3 hours with most scans lasting between 45 and 90 minutes Participants may be asked to lie still for up to 90 minutes at a time In addition to standard MRI participants may also have new types of MRI that may detect brain abnormalities when regular MRI is normal such as diffusion tensor MRI and magnetic resonance spectroscopy There are no noticeable differences from ordinary MRI scans
Positron Emission Tomography
A catheter plastic tube is placed in a vein in the subjects wrist The subject lies on a table with his or her head placed in the scanner A mask used to help keep the head still in the scanner is placed over the head The mask is not uncomfortable and has holes for the subject to see through A radioactive compound called flumazenil is injected into a vein The scan takes about 90 minutes
Some children need to be sedated for PET or MRI scans In these cases chloral hydrate a standard drug for pediatric diagnostic procedures is used
Detailed Description:
Objective To measure CNS GABA receptors and GABA levels in patients with succinic semialdehyde dehydrogenase SSADH deficiency a severe pediatric neurotransmitter disease
Study Population The study will include children and young adult patients with the disorder as well as parents of patients obligate heterozygotes and adult normal volunteers
Design this is a natural history study using neuroimaging techniques We will perform 11C-flumazenil PET scans and magnetic resonance spectroscopy MRS We will perform neurological examinations to obtain data on clinical manifestations of the condition
Outcome measures The outcome measures will be the distribution of CNS binding of 11C-flumazenil and brain GABA levels measured by MRS and their relation to clinical manifestations such as motor speech and language impairment hypotonia hyporreflexia and seizures We expect to show that patients with SSADH deficiency will have multifocal reductions in FMZ binding and increased brain GABA levels in a similar pattern
Study Population The study will include children and young adult patients with the disorder as well as parents of patients obligate heterozygotes and adult normal volunteers
Design this is a natural history study using neuroimaging techniques We will perform 11C-flumazenil PET scans and magnetic resonance spectroscopy MRS We will perform neurological examinations to obtain data on clinical manifestations of the condition
Outcome measures The outcome measures will be the distribution of CNS binding of 11C-flumazenil and brain GABA levels measured by MRS and their relation to clinical manifestations such as motor speech and language impairment hypotonia hyporreflexia and seizures We expect to show that patients with SSADH deficiency will have multifocal reductions in FMZ binding and increased brain GABA levels in a similar pattern
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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-N-0022 | None | None | None |