Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Succinic Semialdehyde, Dehydrogenase Deficiency, Diseases
About this trial
This is an observational trial for Succinic Semialdehyde focused on measuring Neurotransmission, Cortical Excitability, GABA, Seizures, Succinic Semialdehyde Dehydrogenase Deficiency, SSADH, Healthy Volunteer, HV
Eligibility Criteria
INCLUSION CRITERIA Patients Persistent 4-hydroxybutyric aciduria (gamma-hydroxybutyric aciduria) Documented succinic semialdehyde dehydrogenase enzyme deficiency English-speaking (or the ability to understand English as a second language) Patients must have clinically documented SSADH deficiency. Patients may be male or female. Female patients of child bearing potential will have a pregnancy test prior to the study to ensure that pregnant patients will not participate in the study. During the study, women of child bearing potential must use a reliable method of birth control. Patients will be aged 5-24 Parents will be aged 18-55 Adult Healthy Volunteers will be aged 18-55 Child Healthy Volunteers will be aged 10-17 EXCLUSION CRITERIA Major debilitating mental or physical illness that would interfere with participation. Pregnancy or lactation Use of alcohol or recreational drugs during the study Patients with progressive neurologic disorders Patients with a history of significant medical disorders Patients requiring treatment of drugs known to affect the GABAergic system, including vigabatrin. Patients with cancer. Patients who had seizure activity 24 hours prior to the study.
Sites / Locations
- Childrens National Medical Center