138 studies found for:    "ornithine translocase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Study Details
Participant Details
Identifiers
Dates
Rank Status Study
1 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
2 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
3 Suspended Ataluren for Nonsense Mutation Methylmalonic Acidemia
Condition: Amino Acid Metabolism, Inborn Errors
Intervention: Drug: Ataluren (PTC124)
4 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
5 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
6 Recruiting A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Conditions: Molybdenum Cofactor Deficiency;   Isolated Sulfite Oxidase Deficiency
Intervention:
7 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
8 Recruiting Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Condition: Aromatic L-amino Acid Decarboxylase Deficiency
Intervention:
9 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
10 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
11 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
12 Terminated Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA)
Intervention: Drug: N-carbamylglutamate
13 Completed Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
Condition: Citrullinemia
Intervention: Other: stable isotope infusion
14 Completed
Has Results
Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
Condition: Phenylketonuria
Intervention: Drug: sapropterin dihydrochloride
15 Completed
Has Results
Taste and Palatability of Orfadin Suspension
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
16 Completed Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: S-adenosylmethionine
17 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
18 Completed The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
19 Completed Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
20 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation;   Behavioral: Psychological Assessment

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Indicates status has not been verified in more than two years