PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency, SSADH Deficiency
About this trial
This is an observational trial for Succinic Semialdehyde Dehydrogenase Deficiency focused on measuring Seizures, Development, Pediatric, Benzodiazepine Receptors, Neurotransmission, Succinic Semialdehyde Dehydrogenase, Deficiency, SSADH Deficiency, Healthy Volunteer, HV
Eligibility Criteria
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.
Sites / Locations
- Childrens National Medical Center
- National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville