Status:
COMPLETED
PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Succinic Semialdehyde Dehydrogenase Deficiency
SSADH Deficiency
Eligibility:
All Genders
5-55 years
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...
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 st...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Patients
- Clinical characteristics consistent with SSADH deficiency.
- Persistent 4-hydroxybutyric aciduria (gamma-hydroxybutyric aciduria)
- Documented leucocyte extract succinic semialdehyde dehydrogenase enzyme deficiency
- English-speaking (or the ability to understand English as a second language)
- Patients may be male or female.
- Female patients of child bearing potential will have a pregnancy test within 24 hours of the study to ensure that pregnant patients will not participate.
- During the study, woman of child bearing potential must use a reliable method of birth control.
- Parents
- Parents of affected patients are, by definition, heterozygous carriers of mutations in the succinic semialdehyde dehydrogenase gene.
- EXCLUSION CRITERIA:
- Neither patients nor healthy volunteers may suffer from mental or physical illness that would interfere with participation.
- Neither patients nor healthy volunteers may be pregnant or nursing
- Neither patients nor healthy volunteers may use alcohol or recreational drugs during the study
- Patients requiring treatment of drugs known to affect the GABAergic system, including vigabatrin.
- Patients who had seizure activity 24 hours prior to the study.
Exclusion
Key Trial Info
Start Date :
October 24 2005
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 19 2010
Estimated Enrollment :
42 Patients enrolled
Trial Details
Trial ID
NCT00246870
Start Date
October 24 2005
End Date
October 19 2010
Last Update
July 2 2017
Active Locations (2)
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1
Childrens National Medical Center
Washington D.C., District of Columbia, United States
2
National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville
Bethesda, Maryland, United States, 20892