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:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
22 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
23 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
24 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
25 Enrolling by invitation Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Conditions: Hyperphenylalaninemia;   Phenylketonuria
Intervention: Drug: Sapropterin
26 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
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  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
29 Recruiting Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of care therapy
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