Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
137 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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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 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
3 Suspended Ataluren for Nonsense Mutation Methylmalonic Acidemia
Condition: Amino Acid Metabolism, Inborn Errors
Intervention: Drug: Ataluren (PTC124)
4 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
5 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
6 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
Intervention:
7 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
8 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
9 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
10 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
11 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
12 Recruiting A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Conditions: Molybdenum Cofactor Deficiency;   Isolated Sulfite Oxidase Deficiency
Intervention:
13 Enrolling by invitation Simple Breath Test to Examine Phenylalanine Metabolism
Condition: Phenylketonuria (PKU)
Intervention:
14 Completed Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
Conditions: Pregnancy;   Phenylketonuria
Intervention: Behavioral: Metabolic camp
15 Completed Trial of L-DOPA as a Treatment to Improve Vision in Albinism
Condition: Albinism
Intervention: Drug: Levodopa
16 Active, not recruiting Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU
Condition: Phenylketonuria
Intervention: Drug: sapropterin dihydrochloride
17 Recruiting Vision Response to Dopamine Replacement
Conditions: Albinism;   Oculocutaneous Albinism
Intervention: Drug: Levodopa/carbidopa
18 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
19 Completed Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: phenylalanine restricted diet
20 Recruiting Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Condition: Phenylketonuria (PKU) and Hyperphenylalaninemia
Intervention:

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Indicates status has not been verified in more than two years