Status | Study |
Recruiting |
Study Name: A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion Condition: Aromatic Amino Acid Decarboxylase Deficiency Date: 2016-10-03 Interventions: Drug: AAV2-hAADC Dosage form: Aqueous solutionDose(s): 2.371x1011 vg/case Dosing schedule: Intracerebral |
Recruiting |
Study Name: Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Condition: Metabolic Disease Date: 2016-09-03 |
Recruiting |
Study Name: A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients Condition: AADC Deficiency Date: 2016-07-20 Interventions: Drug: AAV2-hAADC Subjects will be enrolled sequentially in |
Not yet recruiting |
Study Name: Review of French Cases of Glutathione Synthetase Deficiency Condition: The Glutathione Synthetase Deficiency Date: 2016-06-17 |
Recruiting |
Study Name: Research on the Role of SLC1A5 in the Development of Esophageal Cancer Condition: Esophageal Cancer Amino Acid Transport Disorder Date: 2015-12-06 Interventions: Other: SLC1A5 expression To observe the expression of SLC1A5 by immunohistochemistry and WesternBlot ana |
Active, not recruiting |
Study Name: Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Condition: Propionic Acidemia Methylmalonic Acidemia Date: 2015-04-22 Interventions: Drug: Carglumic Acid Carglumic Acid 50 mg/kg/day (twice daily) |
Completed |
Study Name: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency Condition: Aromatic L-amino Acid Decarboxylase Deficiency Date: 2015-03-21 |
Recruiting |
Study Name: Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency Condition: Metabolic Disease Seizures Date: 2013-12-20 Interventions: Drug: SGS-742 Drug: Placebo |
Active, not recruiting |
Study Name: Suitability of Nitisinone in Alkaptonuria 2 Condition: Alkaptonuria Date: 2013-08-02 Interventions: Drug: Nitisinone drug Other Name: Orfadin |
Completed |
Study Name: Dose Response Study of Nitisinone in Alkaptonuria Condition: Alkaptonuria Date: 2013-04-05 Interventions: Drug: Nitisinone doses 1, 2, 4 & 8 mg plus no treatment arm |