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
135 studies found for:    "ornithine translocase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Enrolling by invitation Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU
Condition: Phenylketonuria (PKU)
Interventions: Drug: BMN165 20mg/day;   Drug: BMN165 40mg/day;   Drug: Placebo
22 Completed Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: Low-dose complex B-vitamins
23 Completed Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Conditions: Tetrahydrobiopterin Deficiencies;   Hyperphenylalaninemia, Non-Phenylketonuric
Intervention: Drug: Phenoptin
24 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
25 Completed Study of Homocysteine Metabolism in Homocystinuria
Condition: Homocystinuria
Intervention:
26 Recruiting Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Conditions: Albinism;   Intestinal Disease;   Kidney Disease;   Myocardial Disease;   Pulmonary Fibrosis
Intervention:
27 Completed Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
Conditions: Pregnancy;   Phenylketonuria
Intervention: Behavioral: Metabolic camp
28 Completed Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
29 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
30 Completed Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: S-adenosylmethionine
31 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation;   Behavioral: Psychological Assessment
32 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
33 Completed The Early History of Universal Screening for Metabolic Disorders
Conditions: Phenylketonuria;   Galactosemia;   Inborn Errors of Metabolism
Intervention:
34 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
35 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
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 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
39 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
40 Completed Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Condition: Phenylketonuria
Intervention: Drug: KUVAN (BH4)

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Indicates status has not been verified in more than two years