9 studies found for:    "pyruvate carboxylase deficiency" OR "Pyruvate Metabolism, Inborn Errors"
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"pyruvate carboxylase deficiency" OR "Pyruvate Metabolism, Inborn Errors" (9 records)
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Rank Status Study
1 Available Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency Disease;   ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of
Intervention: Drug: triheptanoin
2 Recruiting A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency
Condition: Pyruvate Kinase Deficiency
Intervention: Drug: AG-348
3 Recruiting Pyruvate Kinase Deficiency Natural History Study
Conditions: Pyruvate Kinase Deficiency;   Congenital Non-Spherocytic Hemolytic Anemia
4 Not yet recruiting Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
Condition: Pyruvate Dehydrogenase Complex Deficiency
Interventions: Drug: Dichloroacetate (DCA);   Other: Placebo;   Genetic: Genotype
5 Recruiting A Dose-escalating Clinical Trial With KH176
Conditions: MELAS;   LHON;   Leigh Syndrome;   Mitochondrial Disease;   Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
Interventions: Drug: KH176;   Drug: placebo
6 Enrolling by invitation Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Intervention: Drug: EPI-743
7 Recruiting Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease
Condition: Inherited Mitochondrial Disease, Including Leigh Syndrome
Intervention: Drug: Cysteamine Bitartrate Delayed-release Capsules (RP103)
8 Recruiting Tissue Sample Study for Mitochondrial Disorders
Conditions: Mitochondrial Disorders;   Mitochondrial Disease;   Melas;   Kearns Sayer;   NARP;   MNGIE;   LHON;   Mitochondrial Depletion Syndrome;   Leigh's Disease
9 Unknown  Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Interventions: Drug: Placebo;   Drug: EPI-743 15 mg/kg;   Drug: EPI-743 5 mg/kg

Indicates status has not been verified in more than two years