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187 studies found for:    "argininosuccinic aciduria" OR "amino acid metabolism, inborn errors"
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Rank Status Study
1 Completed
Has Results
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Conditions: Argininosuccinic Aciduria;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Interventions: Drug: Sodium Phenylbutyrate;   Drug: Arginine
2 Recruiting Nitric Oxide Supplementation in Argininosuccinic Aciduria
Conditions: Argininosuccinic Aciduria;   Argininosuccinate Lyase Deficiency;   Urea Cycle Disorders
Interventions: Dietary Supplement: Nitric oxide supplement;   Dietary Supplement: Placebo
3 Terminated The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Conditions: Argininosuccinic Aciduria;   Carbamoyl-Phosphate Synthase I Deficiency;   Citrullinemia;   Ornithine Carbamoyltransferase Deficiency;   Hyperargininemia;   N-Acetylglutamate Synthase Deficiency
4 Not yet recruiting Urease Inhibitor Drug Treatment for Urea Cycle Disorders
Conditions: Ornithine Transcarbamylase Deficiency;   Argininosuccinate Synthetase Deficiency (Citrullinemia);   Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);   Carbamyl-Phosphate Synthase I Deficiency
Interventions: Drug: Acetohydroxamic Acid;   Drug: Isotopic Intravenous [13C]-Urea
5 Suspended Ataluren for Nonsense Mutation Methylmalonic Acidemia
Condition: Amino Acid Metabolism, Inborn Errors
Intervention: Drug: Ataluren (PTC124)
6 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
7 Completed Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylacetate;   Drug: Sodium Phenylbutyrate;   Behavioral: Dietary Intervention
8 Unknown  Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Genetic: Ornithine transcarbamylase vector
9 Completed Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of Care Therapy
10 Recruiting A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion
Condition: Aromatic Amino Acid Decarboxylase Deficiency
Intervention: Drug: AAV2-hAADC
11 Recruiting A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
Condition: AADC Deficiency
Intervention: Drug: AAV2-hAADC
12 Not yet recruiting Review of French Cases of Glutathione Synthetase Deficiency
Condition: The Glutathione Synthetase Deficiency
13 Recruiting Research on the Role of SLC1A5 in the Development of Esophageal Cancer
Conditions: Esophageal Cancer;   Amino Acid Transport Disorder
Intervention: Other: SLC1A5 expression
14 Recruiting Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
Conditions: Propionic Acidemia;   Methylmalonic Acidemia
Intervention: Drug: Carglumic Acid
15 Recruiting Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Condition: Aromatic L-amino Acid Decarboxylase Deficiency
16 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
17 Unknown  EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Conditions: Methylmalonic Aciduria and Homocystinuria,Cblc Type;   Genetic Disease;   Retinopathy
Interventions: Drug: Epi-743;   Other: Placebo supplementation
18 Completed A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Conditions: Molybdenum Cofactor Deficiency;   Isolated Sulfite Oxidase Deficiency
19 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia, Type I and/or Type II;   Methylmalonic Acidemia;   Carbamoyl-Phosphate Synthase I Deficiency Disease;   Ornithine Carbamoyltransferase Deficiency
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
20 Terminated Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA)
Interventions: Drug: N-carbamylglutamate;   Other: Standard of Care

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Indicates status has not been verified in more than two years