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
137 studies found for:    "argininosuccinic aciduria" OR "amino acid metabolism, inborn errors"
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Rank Status Study
21 Enrolling by invitation Simple Breath Test to Examine Phenylalanine Metabolism
Condition: Phenylketonuria (PKU)
Intervention:
22 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
23 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
24 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
25 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
26 Enrolling by invitation Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Conditions: Hyperphenylalaninemia;   Phenylketonuria
Intervention: Drug: Sapropterin
27 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
28 Completed 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients
Conditions: Mortality;   Hyperhomocysteinemia;   Inflammation
Interventions: Drug: 5-MTHF (5-methyltetrahydrofolate);   Drug: folic acid
29 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
30 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
31 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
32 Recruiting Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Condition: Phenylketonuria (PKU) and Hyperphenylalaninemia
Intervention:
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 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
35 Completed
Has Results
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
Condition: Phenylketonuria
Intervention: Drug: KuvanTM Therapy
36 Completed The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Condition: Phenylketonuria
Intervention: Other: MRI
37 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
38 Active, not recruiting Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Drug: rAvPAL-PEG
39 Active, not recruiting A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
Condition: Phenylketonuria
Intervention: Biological: rAvPAL-PEG
40 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA);   Late-onset CPS1 Deficiency (CPSD);   Late-onset Ornithine Transcarbamylase Deficiency (OTCD)
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment

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Indicates status has not been verified in more than two years