Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism
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 inte...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2013-05, Vol.36 (3), p.401-410 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Vogel, Kara R. Pearl, Phillip L. Theodore, William H. McCarter, Robert C. Jakobs, Cornelis Gibson, K. Michael |
| description | 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. |
| doi_str_mv | 10.1007/s10545-012-9499-5 |
| format | Article |
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B
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B
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Michael</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2013-05</date><risdate>2013</risdate><volume>36</volume><issue>3</issue><spage>401</spage><epage>410</epage><pages>401-410</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>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.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>22739941</pmid><doi>10.1007/s10545-012-9499-5</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.401-410 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SpringerLink Journals |
| subjects | Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - history Amino Acid Metabolism, Inborn Errors - metabolism Amino Acid Metabolism, Inborn Errors - therapy Animals Biochemistry Biological and medical sciences Clinical Trials as Topic Developmental Disabilities GABA-B Receptor Antagonists - therapeutic use gamma-Aminobutyric Acid - deficiency gamma-Aminobutyric Acid - metabolism History, 20th Century History, 21st Century Human Genetics Humans Internal Medicine Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Mice Models, Biological Pediatrics Review Succinate-Semialdehyde Dehydrogenase - deficiency Succinate-Semialdehyde Dehydrogenase - history Succinate-Semialdehyde Dehydrogenase - metabolism Time Factors |
| title | Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism |
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