176 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Active, not recruiting Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone Baked Tablet;   Drug: Orfadin
22 Completed Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
23 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
24 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
25 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
26 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
27 Not yet recruiting Simplified Diet Approach in Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables
28 Completed Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients
Conditions: Type 2 Diabetes;   Vitamin B12 Deficiency;   Hyperhomocysteinemia
Intervention: Dietary Supplement: METHYLCOBALAMIN 500 micrograms
29 Recruiting Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
Condition: Urea Cycle Disorders
Intervention: Biological: HepaStem
30 Not yet recruiting A Study of AEB1102 in Patients With Arginase I Deficiency
Conditions: Arginase I Deficiency;   Hyperargininemia
Intervention: Drug: AEB1102
31 Active, not recruiting A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
Condition: Phenylketonuria
Intervention: Other: Administration of CANTAB and Subject Global Assessment
32 Enrolling by invitation Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients
Conditions: Segmental Vitiligo;   Piebaldism
Interventions: Device: ReCell;   Device: Full surface CO2 laser 200 mJ;   Device: Full surface CO2 laser 150 mJ;   Device: Fractional CO2 laser 7.5 mJ, 20%
33 Completed Testing of Four Home Phenylalanine Monitoring Prototype Devices
Condition: Phenylketonurias
Intervention:
34 Recruiting Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Condition: Phenylketonuria (PKU)
Interventions: Dietary Supplement: Phenylketonuria-type diet;   Other: Normal (control) diet
35 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
36 Completed
Has Results
Effect of L-Arginine and Pycnogenol on Light to Moderate Hypertension and Endothelial Function
Conditions: Endothelial Dysfunction;   Hyperhomocysteinemia;   Hypertension Grade I, Subgroup "Borderline" (WHO)
Interventions: Dietary Supplement: Verum;   Dietary Supplement: Placebo
37 Recruiting A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Condition: Hermansky Pudlak Syndrome
Interventions: Other: Pulmonary function test;   Other: Chest CT;   Other: Sample collection
38 Completed Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
39 Enrolling by invitation Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
40 Recruiting Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Condition: Urea Cycle Disorders
Intervention:

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Indicates status has not been verified in more than two years