Taurine Therapy for SSADH Deficiency
|First Received Date ICMJE||May 25, 2012|
|Last Updated Date||May 23, 2013|
|Start Date ICMJE||April 2012|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||TMS parameters of cortical excitation and inhibition.|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT01608178 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE
||Change in CSF GABA, GHB, succinic semialdehyde, homocarnosine, 4,5-dihydroxyhexanoic acid, D-2-hydroxyglutaric acid, homovanillic acid, and 5-HIAA levels.|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Taurine Therapy for SSADH Deficiency|
|Official Title ICMJE||Succinic Semialdehyde Dehydrogenase Deficiency: Physiological Markers of Taurine Therapy|
- Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare genetic disease that results in changes to certain brain chemicals. These chemicals may affect brain excitability, or how likely nerve cells are to turn on. Changes in brain excitability may help to explain the symptoms of the disease, including learning and memory problems, seizures, and poor balance. A supplement called taurine may help people with SSADH deficiency by working on the brain chemical GABA. GABA helps to regulate brain activity. Researchers want to see if taurine can help people with SSADH deficiency.
- To learn more about how taurine affects the brain in people with SSADH deficiency.
- Individuals at least 12 years of age who have SSADH deficiency.
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.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Time Perspective: Prospective|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Succinic Semialdehyde Dehydrogenase|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||18|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
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.
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.
|Ages||12 Years and older|
|Accepts Healthy Volunteers||Yes|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT01608178|
|Other Study ID Numbers ICMJE||120123, 12-N-0123|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Institute of Neurological Disorders and Stroke (NINDS)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||March 2013|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP