Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 36, Issue 3, Pages 401-410Publisher
WILEY
DOI: 10.1007/s10545-012-9499-5
Keywords
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Funding
- NCRR NIH HHS [UL1 RR031988, UL1RR031988] Funding Source: Medline
- NICHD NIH HHS [HD 58553, R01 HD058553, P30 HD040677, P30HD40677] Funding Source: Medline
- NINDS NIH HHS [R01 NS082286] Funding Source: Medline
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This review summarizes a presentation made at the retirement Symposium of Prof. Dr. Cornelis Jakobs in November of 2011, highlighting the progress toward clinical trials in succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder first recognized in 1981. Active and potential clinical interventions, including vigabatrin, L-cycloserine, the GHB receptor antagonist NCS-382, and the ketogenic diet, are discussed. Several biomarkers to gauge clinical efficacy have been identified, including cerebrospinal fluid metabolites, neuropsychiatric testing, MRI, EEG, and measures of GABAergic function including (11 C)flumazenil positron emission tomography (PET) and transcranial magnetic stimulation (TMS). Thirty years after its discovery, encompassing extensive studies in both patients and the corresponding murine model, we are now running an open-label trial of taurine intervention, and are poised to undertake a phase II trial of the GABA(B) receptor antagonist SGS742.
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