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Inborn Amino Acid Metabolism Disorder - 25 Studies Found
Estado | Estudiar |
Suspended |
Nombre del estudio: Ataluren for Nonsense Mutation Methylmalonic Acidemia Condición: Amino Acid Metabolism, Inborn Errors Fecha: 2010-06-07 Intervenciones: Drug: Ataluren (PTC124) Ataluren (PTC124) will be provided as a vanilla-flavored powder to be mixed with |
Completed |
Nombre del estudio: Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Condición: Amino Acid Metabolism, Inborn Errors Fecha: 2000-02-24 Intervenciones:
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Completed |
Nombre del estudio: Study of Treatment and Metabolism in Patients With Urea Cycle Disorders Condición: Amino Acid Metabolism, Inborn Errors Fecha: 1999-10-18 Intervenciones:
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Completed |
Nombre del estudio: Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Condición:
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Recruiting |
Nombre del estudio: Longitudinal Study of Urea Cycle Disorders Condición:
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Recruiting |
Nombre del estudio: A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion Condición: Aromatic Amino Acid Decarboxylase Deficiency Fecha: 2016-10-03 Intervenciones: Drug: AAV2-hAADC Dosage form: Aqueous solutionDose(s): 2.371x1011 vg/case Dosing schedule: Intracerebral |
Recruiting |
Nombre del estudio: A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients Condición: AADC Deficiency Fecha: 2016-07-20 Intervenciones: Drug: AAV2-hAADC Subjects will be enrolled sequentially in |
Not yet recruiting |
Nombre del estudio: Review of French Cases of Glutathione Synthetase Deficiency Condición: The Glutathione Synthetase Deficiency Fecha: 2016-06-17 |
Completed |
Nombre del estudio: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency Condición: Aromatic L-amino Acid Decarboxylase Deficiency Fecha: 2015-03-21 |
Completed |
Nombre del estudio: PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Condición:
Fecha: 2005-10-29 |