NCT01608178

Taurine Therapy for SSADH Deficiency

Completed Last updated 17 December 2019

What this trial tests

trial in Succinic Semialdehyde Dehydrogenase in 7 participants. Completed in 16 December 2013.

Timeline

27 April 2012

16 December 2013

Quick facts

Lead sponsor	National Institute of Neurological Disorders and Stroke (NINDS)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	7
Start date	27 April 2012
Estimated completion	16 December 2013
Sites	1 location across United States

Conditions studied

• Succinic Semialdehyde Dehydrogenase — all drugs for Succinic Semialdehyde Dehydrogenase →

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Who can join

12 and older, any sex, with Succinic Semialdehyde Dehydrogenase. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

\- 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.

Objectives:

\- To learn more about how taurine affects the brain in people with SSADH deficiency.

Eligibility:

\- Individuals at least 12 years of age who have SSADH deficiency.

Design:

* Participants will be screened with a physical exam and medical history. They will provide blood and urine samples. They will also take taurine supplements as part of this protocol.
* Participants will have two sets of study tests. One set will be given while participants are taking taurine. The second will be given when they are not taking it. Each testing session will take about 2 days to complete.
* Half of the participants will have the "off taurine" testing before starting on the taurine supplement. The other half will start taking taurine first, have the "on taurine" testing, and have the "off taurine" testing about 3 months after stopping taurine. Participants may decide the order in which they will have the testing done.
* Participants will have the following tests at the two test visits:
* Paper and pencil tests of learning and memory.
* Transcranial magnetic stimulation to study the excitability of nerve cells.
* Imaging studies to show GABA receptors in the brain and measure their activity.
* Electroencephalogram to measure brain waves.
* Lumbar puncture to collect spinal fluid.
* Participants will be monitored with regular study visits while they receive the taurine supplement treatment.

Publications & conference data

4 peer-reviewed publications reference this trial (live from Europe PMC):

1. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
   Parviz M, Vogel K, Gibson KM, Pearl PL. · · 2014 · cited 55× · PMID 25485164 · DOI 10.3233/pep-14097
2. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
   Pearl PL, Parviz M, Vogel K, Schreiber J, et al · · 2015 · cited 39× · PMID 25558043 · DOI 10.1111/dmcn.12668
3. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
   Forni S, Pearl PL, Gibson KM, Yu Y, et al · · 2013 · cited 26× · PMID 23742746 · DOI 10.1016/j.ymgme.2013.05.002
4. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.
   Pearl PL, Schreiber J, Theodore WH, McCarter R, et al · · 2014 · cited 23× · PMID 24523482 · DOI 10.1212/wnl.0000000000000210