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
140 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
1 Unknown  Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
Condition: Citrullinemia
Intervention: Other: stable isotope infusion
2 Active, not recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency;   Ornithine Transcarbamylase Deficiency;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
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 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 Suspended Ataluren for Nonsense Mutation Methylmalonic Acidemia
Condition: Amino Acid Metabolism, Inborn Errors
Intervention: Drug: Ataluren (PTC124)
7 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
8 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:
9 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
10 Recruiting 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
11 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
12 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
13 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
14 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
15 Completed Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
Conditions: Methionine Adenosyltransferase Deficiency;   Metabolism, Inborn Errors
Intervention: Drug: phosphatidylcholine
16 Recruiting A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Conditions: Molybdenum Cofactor Deficiency;   Isolated Sulfite Oxidase Deficiency
Intervention:
17 Not yet recruiting Suitability of Nitisinone in Alkaptonuria 2
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
18 Withdrawn Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome
Conditions: Hermanski-Pudlak Syndrome;   Colitis;   Cytokines;   Lymphocytes;   Drug Evaluation
Interventions: Drug: Mesalamine;   Drug: Infliximab;   Drug: Corticosteroids;   Drug: 6-Mercaptopurine;   Drug: Tacrolimus;   Drug: Adalimumab
19 Completed Homocyst(e)Ine, Vitamin Status, and CVD Risk
Conditions: Cardiovascular Diseases;   Cerebrovascular Accident;   Coronary Disease;   Myocardial Infarction;   Heart Diseases;   Hyperhomocysteinemia
Intervention:
20 Enrolling by invitation Effects of Kuvan on Melatonin Secretion
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan;   Dietary Supplement: Large Neutral Amino Acid Therapy

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Indicates status has not been verified in more than two years