153 studies found for:    "ornithine translocase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Completed Hyperphenylalaninemia in Cerebral Malaria
Condition: Plasmodium Falciparum Malaria
Intervention:
22 Recruiting Clinical and Basic Investigations Into Erdheim Chester Disease
Conditions: Myelofibrosis;   Gaucher Disease;   Pulmonary Fibrosis;   Hermansky-Pudlak Syndrome (HPS);   Cancer
Intervention:
23 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
24 Active, not recruiting Biotin Status in Pregnancy
Condition: Biotin Deficiency
Intervention: Dietary Supplement: biotin
25 Enrolling by invitation Effects of Kuvan on Brain and Cognition in Individuals With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
26 Enrolling by invitation The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Drug: Sapropterin (Kuvan)
27 Completed Dose Response Study of Nitisinone in Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
28 Not yet 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
29 Completed
Has Results
Study of the Efficacy and Safety of HPN-100, Glyceryl Tri-(4-phenylbutyrate), for the Treatment of Adults With Urea Cycle Disorders (Help UCD)
Condition: Urea Cycle Disorders
Interventions: Drug: HPN-100;   Drug: Buphenyl (NaPBA)
30 Completed Visual Function and Ocular Pigmentation in Albinism
Conditions: Albinism;   Albinism, Ocular;   Albinism, Oculocutaneous
Intervention:
31 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Biological: HHLivC
32 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
33 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
34 Completed Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors
Condition: Phenylketonuria
Intervention:
35 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
36 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:
37 Completed
Has Results
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
Condition: Phenylketonurias
Interventions: Drug: Sapropterin Dihydrochloride;   Drug: Placebo
38 Completed Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Condition: Phenylketonuria
Intervention: Drug: KUVAN (BH4)
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 Recruiting 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

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Indicates status has not been verified in more than two years