Pyruvate Metabolism, Inborn Errors - 12 Studies Found
Active, not recruiting |
: A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency : Pyruvate Kinase Deficiency : 2015-06-10 : Drug: AG-348 A range of doses of AG-348 will be tested based on the assessment of safety, tolerability a |
Active, not recruiting |
: Pyruvate Kinase Deficiency Natural History Study :
: 2014-01-28 |
Recruiting |
: The Leigh Syndrome Registry :
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Recruiting |
: Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies : Pyruvate Dehydrogenase Complex Deficiency Disease : 2017-01-27 : Other: No intervention This is an observational study. The investigators will collect data about exposur |
Not yet recruiting |
: Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: : Pyruvate Dehydrogenase Complex Deficiency : 2015-11-17 :
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Completed |
: A Dose-escalating Clinical Trial With KH176 :
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Enrolling by invitation |
: Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome : Leigh Syndrome : 2014-08-21 : Drug: EPI-743 EPI-743 is a quinone oxidation product of alpha tocotrienol |
Completed |
: Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease : Inherited Mitochondrial Disease, Including Leigh Syndrome : 2013-12-17 : Drug: Cysteamine Bitartrate Cysteamine Bitartrate Delayed-release Capsules |
Enrolling by invitation |
: Tissue Sample Study for Mitochondrial Disorders :
: 2012-08-31 |
Recruiting |
: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford :
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