137 studies found for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"
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Rank Status Study
21 Active, not recruiting EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Conditions: Methylmalonic Aciduria and Homocystinuria,Cblc Type;   Genetic Disease;   Retinopathy
Interventions: Drug: Epi-743;   Other: Placebo supplementation
22 Recruiting Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Conditions: Albinism;   Oculocutaneous Albinism;   Foveal Hypoplasia;   Hypopigmentation;   Nystagmus
Intervention:
23 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
24 Completed Study of NTBC for Tyrosinemia I
Condition: Tyrosinemia I
Intervention: Drug: NTBC
25 Completed The Effect of Folic Acid Administration in the Progression of Microalbuminuria
Conditions: Diabetic Nephropathies;   Hyperhomocysteinemia
Interventions: Drug: Folic acid;   Drug: Placebo
26 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
27 Unknown  Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
Conditions: Phenylketonuria;   Behavior and Behavior Mechanisms;   PAH Gene Expression
Intervention: Drug: sapropterin dihydrochloride
28 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
29 Enrolling by invitation Effects of Kuvan on Melatonin Secretion
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan;   Dietary Supplement: Large Neutral Amino Acid Therapy
30 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
31 Terminated 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
32 Active, not recruiting CSPPT- Chronic Kidney Diseases Study
Conditions: Hypertension;   Hyperhomocysteinemia
Interventions: Drug: Enalapril maleate and folic acid tablets;   Drug: Enalapril maleate
33 Recruiting A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Condition: Hermansky Pudlak Syndrome
Interventions: Other: Pulmonary function test;   Other: Chest CT;   Other: Sample collection
34 Completed Visual Function and Ocular Pigmentation in Albinism
Conditions: Albinism;   Albinism, Ocular;   Albinism, Oculocutaneous
Intervention:
35 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Condition: Urea Cycle Disorders
Intervention: Biological: HHLivC
36 Active, not recruiting A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
Condition: Phenylketonuria
Intervention: Biological: rAvPAL-PEG
37 Terminated Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency
Condition: Ornithine Transcarbamylase Deficiency Disease
Intervention: Genetic: recombinant adenovirus containing the ornithine transcarbamylase gene
38 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
39 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
40 Terminated Behavioral Effects of Kuvan in Children With Mild Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan

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Indicates status has not been verified in more than two years