An observational study in Succinic Semialdehyde Dehydrogenase, sponsored by National Institute of Neurological Disorders and Stroke (NINDS). Completed at 1 site in United States. Open to participants aged 12 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2019-12-17.
Sponsored by National Institute of Neurological Disorders and Stroke (NINDS) · Observational
Background:
Objectives:
Eligibility:
Design:
Objective: To study the physiologic effects of taurine therapy in patients with succinic semialdehyde Dehydrogenase (SSADH) deficiency.
Study Population: Eighteen children and adults with SSADH deficiency receiving taurine.
Design: This small open label trial will evaluate the effect of taurine treatment on key SSADH biomarkers and neurocognitive performance. Study evaluations will include neurological and neuropsychological examinations, positron emission tomography (PET) with 11C-flumazenil (FMZ), (optional and only for those over age 18), magnetic resonance spectroscopy (MRS) (optional) and cerebrospinal fluid (CSF) collection (optional) to measure gamma-aminobutyric acid (GABA) levels, and transcranial magnetic stimulation (TMS) to measure cortical excitation and inhibition, in patients given taurine for SSADH deficiency.
The evaluations will be performed twice, on and off therapy.
National Institute of Neurological Disorders and Stroke (NINDS) is the lead sponsor of 592 studies on the registry; 56 are open to participants now.
Of its 18 completed or terminated interventional studies of FDA-regulated products, 8 (44%) have results posted.
Counted across the registry records on this site, refreshed daily.
Persistent 4-hydroxybutyric aciduria (gamma-hydroxybutyric aciduria).
Documented succinic semialdehyde dehydrogenase enzyme deficiency.
Patients will be at least 12 years old.
Be enrolled in the taurine study at CNMC.
EXCLUSION CRITERIA:
Pregnancy or lactation.
Patients with a history of other significant medical disorders.
Patients requiring treatment with drugs known to affect the GABAergic system, including vigabatrin, barbiturates, and benzodiazepines.
Hearing loss. The effect of TMS on hearing is not fully known. Patients will be screened with an Audiometer.
Abnormal platelets or coagulation studies suggesting increased risk for lumbar puncture or TMS
Exclusions for MRI and MRS: pacemakers or other implanted electrical devices, brain stimulators, some types of dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pump, or shrapnel fragments, welders and metal workers.
Exclusions for TMS: people with implanted medical devices such as pacemakers, implanted pumps, stimulators, or cochlear implants or in people who have metal objects inside the eye or skull.
TMS parameters of cortical excitation and inhibition.
Change in CSF GABA, GHB, succinic semialdehyde, homocarnosine, 4,5-dihydroxyhexanoic acid, D-2-hydroxyglutaric acid, homovanillic acid, and 5-HIAA levels.
This study is completed, as verified in Dec 2013. You cannot join it, but the record below documents what was studied.
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National Institute of Neurological Disorders and Stroke (NINDS)