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
140 studies found for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 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
22 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:
23 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
24 Enrolling by invitation Simple Breath Test to Examine Phenylalanine Metabolism
Condition: Phenylketonuria (PKU)
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 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
28 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
29 Enrolling by invitation Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Conditions: Hyperphenylalaninemia;   Phenylketonuria
Intervention: Drug: Sapropterin
30 Completed
Has Results
Study of the Safety of HPN-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
31 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
32 Unknown  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
33 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
34 Unknown  Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis
Conditions: End Stage Renal Disease;   Hyperhomocysteinemia
Interventions: Drug: cyanocobalamin;   Drug: folic acid;   Drug: pyridoxine
35 Recruiting Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Condition: Phenylketonuria (PKU) and Hyperphenylalaninemia
Intervention:
36 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
37 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
38 Completed
Has Results
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
Condition: Phenylketonuria
Intervention: Drug: KuvanTM Therapy
39 Completed The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Condition: Phenylketonuria
Intervention: Other: MRI
40 Completed
Has Results
Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children 6-17 Years of Age With Urea Cycle Disorders, With a Long-Term Safety Extension
Condition: Urea Cycle Disorders
Interventions: Drug: HPN-100;   Drug: NaPBA

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Indicates status has not been verified in more than two years