161 studies found for:    "ornithine translocase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
Show Display Options
Rank Status Study
21 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
22 Terminated Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
Condition: Phenylalanine Hydroxylase Deficiencies
Intervention: Drug: tetrahydrobiopterin (BH4)
23 Recruiting Study of a National Cohort of Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Intervention:
24 Terminated Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention:
25 Active, not recruiting Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG
26 Completed The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU)
Condition: Phenylketonuria
Interventions: Dietary Supplement: Docosahexaenoic Acid;   Dietary Supplement: Corn/soy oil
27 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
28 Terminated Phase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase Deficiency
Condition: Ornithine Transcarbamylase Deficiency Disease
Intervention: Genetic: Adenoviral Vector-Mediated Gene Transfer
29 Completed Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Condition: Phenylketonuria
Intervention: Drug: KUVAN (BH4)
30 Unknown  Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
Condition: Essential Hypertension
Interventions: Drug: Amlodipine;   Drug: amlodipine-FA tablet, low dose group;   Drug: amlodipine-FA tablet ,high dose group
31 Completed Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
32 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
33 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
34 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
35 Active, not recruiting Sapropterin in Individuals With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
36 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
37 Completed Study of NTBC for Tyrosinemia I
Condition: Tyrosinemia I
Intervention: Drug: NTBC
38 Recruiting Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation
Conditions: Piebaldism;   Idiopathic Anaphylaxis;   Allergy;   Chronic Urticara;   Angioedema
Intervention:
39 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
40 Completed Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
Conditions: Cardiovascular Disease;   Hyperhomocysteinemia
Intervention:

First Page    Show previous page of results Previous Page (1-20) Studies Shown (21-40) Next Page (41-60) Show next page of results    Last Page
Indicates status has not been verified in more than two years