Status:
COMPLETED
Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Succinic Semialdehyde
Dehydrogenase Deficiency
Eligibility:
All Genders
5-55 years
Brief Summary
This study will measure brain excitability in patients with succinic semialdehyde dehydrogenase (SSADH) deficiency, and in their parents. SSADH is a rare inherited disease in which changes in certain ...
Detailed Description
Objective: To study cortical excitability, electroencephalography patterns, nerve conduction velocity, and sleep patterns, in succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal r...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
August 16 2005
Trial Type :
OBSERVATIONAL
End Date :
June 30 2008
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT00132366
Start Date
August 16 2005
End Date
June 30 2008
Last Update
July 2 2017
Active Locations (1)
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1
Childrens National Medical Center
Washington D.C., District of Columbia, United States