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154 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 Suspended Ataluren for Nonsense Mutation Methylmalonic Acidemia
Condition: Amino Acid Metabolism, Inborn Errors
Intervention: Drug: Ataluren (PTC124)
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 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
4 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
5 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
6 Active, not recruiting 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
7 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
8 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
9 Withdrawn Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Conditions: Urea Cycle Disorders, Inborn;   Inborn Errors of Metabolism;   Propionic Acidemia;   Methylmalonic Acidemia;   Carbamyl Phosphate Synthetase Deficiency
Intervention: Drug: N-carbamylglutamate
10 Unknown  Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
Conditions: Malonic Aciduria;   Methylmalonic Acidemia
Intervention:
11 Recruiting A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Conditions: Molybdenum Cofactor Deficiency;   Isolated Sulfite Oxidase Deficiency
Intervention:
12 Recruiting Clinical and Laboratory Study of Methylmalonic Acidemia
Conditions: Amino Acid Metabolism;   Inborn Errors
Intervention:
13 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
14 Recruiting A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADCdeficiency Using AAV2-hAADC
Condition: Aromatic Amino Acid Decarboxylase Deficiency
Intervention: Genetic: gene therapy
15 Recruiting Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA)
Intervention: Drug: N-carbamylglutamate
16 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
17 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA);   Late-onset CPS1 Deficiency (CPSD);   Late-onset Ornithine Transcarbamylase Deficiency (OTCD)
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
18 Not yet recruiting The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
Conditions: Ocular Albinism (OA);   Oculocutaneous Albinism (OCA)
Interventions: Dietary Supplement: Lutein plus Zeaxanthin;   Dietary Supplement: Placebo
19 Completed Dose Response Study of Nitisinone in Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
20 Recruiting Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Conditions: Urea Cycle Disorders, Inborn;   Other Metabolic Diseases
Interventions: Dietary Supplement: montmorillonite 5 g;   Dietary Supplement: montmorillonite 3 g;   Dietary Supplement: Montmorillonite 1 g

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Indicates status has not been verified in more than two years