137 studies found for:    "ornithine translocase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Completed Study of Homocysteine Metabolism in Homocystinuria
Condition: Homocystinuria
Intervention:
22 Completed Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria
Condition: Phenylketonuria
Interventions: Dietary Supplement: high oleic sunflower oil;   Dietary Supplement: microalgal oil
23 Recruiting Kuvan®'s Effect on the Cognition of Children With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
24 Completed Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors
Condition: Phenylketonuria
Intervention:
25 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
26 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
27 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
28 Unknown  Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)
29 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
30 Completed Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events
Conditions: Uremia;   Chronic Renal Failure;   Hemodialysis;   Hyperhomocysteinemia;   Cardiovascular Disease
Intervention: Drug: folate treatment
31 Terminated
Has Results
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
Conditions: Hermansky-Pudlak Syndrome (HPS);   Pulmonary Fibrosis;   Oculocutaneous Albinism;   Platelet Storage Pool Deficiency;   Metabolic Disease
Interventions: Drug: Losartan;   Drug: Zileuton;   Drug: N-Acetylcysteine;   Drug: Pravastatin;   Drug: Erythromycin
32 Terminated Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
Condition: Ornithine Transcarbamylase Deficiency
Interventions: Behavioral: MRI scanning;   Behavioral: Cognitive testing
33 Completed A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
Condition: Phenylketonuria
Interventions: Drug: sapropterin dihydrochloride;   Drug: Moxifloxacin
34 Enrolling by invitation Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
Condition: Phenylketonuria
Interventions: Dietary Supplement: Amino Acid (AA) Diet Given First;   Dietary Supplement: Glycomacropeptide (GMP) diet given first
35 Completed Follow-up of Adult Phenylketonuria (PKU) Patients
Conditions: Nutritional Deficiencies;   Phenylketonuria
Intervention:
36 Active, not recruiting To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
37 Completed Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
Condition: Phenylketonuria
Interventions: Drug: Sapropterin dihydrochloride;   Drug: Placebo
38 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
39 Active, not recruiting
Has Results
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Conditions: Albinism;   Inborn Errors of Metabolism;   Oculocutaneous Albinism;   Platelet Storage Pool Deficiency;   Pulmonary Fibrosis
Interventions: Drug: Pirfenidone;   Drug: Placebo
40 Completed The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers
Condition: Hyperhomocysteinemia
Interventions: Drug: TEST 1;   Drug: TEST 2;   Drug: TEST 3;   Drug: TEST 4

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Indicates status has not been verified in more than two years