166 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Not yet 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
22 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%
23 Enrolling by invitation Testing of Four Home Phenylalanine Monitoring Prototype Devices
Condition: Phenylketonurias
Intervention:
24 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
25 Not yet recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
26 Recruiting Effect of L-Arginine and Pycnogenol on Light to Moderate Hypertension and Endothelial Function
Conditions: Hyperhomocysteinemia;   Hypertension Grade I
Intervention: Dietary Supplement: Verum
27 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
28 Recruiting 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
29 Recruiting Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
30 Recruiting Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Condition: Urea Cycle Disorders
Intervention:
31 Recruiting PKU Kuvan Imaging Study
Condition: Phenylketonuria
Intervention:
32 Recruiting Nitric Oxide Supplementation in Argininosuccinic Aciduria
Conditions: Argininosuccinic Aciduria;   Argininosuccinate Lyase Deficiency;   Urea Cycle Disorders
Interventions: Dietary Supplement: Nitric oxide supplement;   Dietary Supplement: Placebo
33 Recruiting A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention: Drug: RAVICTI
34 Recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
35 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
36 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:
37 Recruiting A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism)
Conditions: Vitiligo;   Piebaldism
Interventions: Device: VITICELL;   Device: PLACEBO
38 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
39 Recruiting Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
Condition: UCDs (The Data May be Helpful in the Treatment of UCDs.)
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylbutyrate;   Drug: Phenylbutyrate and Benzoate
40 Active, not recruiting Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001)
Conditions: Urea Cycle Disorders,;   Crigler Najjar Syndrome
Intervention:

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Indicates status has not been verified in more than two years