167 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
22 Recruiting Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
Condition: UCDs (The Data May be Helpful in the Treatment of UCDs.)
Interventions: Drug: Sodium Benzoate;   Drug: Sodium Phenylbutyrate;   Drug: Phenylbutyrate and Benzoate
23 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation;   Behavioral: Psychological Assessment
24 Unknown  Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
Conditions: Fabry Disease, Cardiac Variant;   Right Ventricular Hypertrophy
Intervention:
25 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome;   Unexplained Copper Deficiency
Intervention: Drug: Copper Histidine
26 Recruiting Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150 mg
27 Recruiting Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease
Condition: Fabry Disease
Intervention:
28 Recruiting Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
Condition: Pompe Disease
Intervention:
29 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
30 Unknown  Influence of Caloric Restriction and Resveratrol in the Sirtuin System in Women and Men Aged 55 to 65 Years
Conditions: Vascular System Injuries;   Lipid Metabolism Disorders;   Endothelial Disfunction
Interventions: Drug: Resveratrol;   Behavioral: Caloric restriction
31 Recruiting B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency
Conditions: Hyper IgD Syndrome;   Mevalonate Kinase Deficiency
Intervention:
32 Recruiting Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement Therapy
Condition: Pompe Disease
Interventions: Drug: Albuterol;   Drug: Placebo
33 Recruiting A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
Condition: Pompe Disease
Intervention:
34 Recruiting A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants
Condition: Fabry Disease
Intervention: Biological: agalsidase beta
35 Unknown  Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Genetic: Ornithine transcarbamylase vector
36 Not yet recruiting Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Genetic: Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase;   Drug: Rapamycin;   Other: Lactated Ringer's;   Drug: Rituxan;   Drug: Diphenhydramine;   Drug: Acetaminophen;   Drug: Lidocaine
37 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
38 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:
39 Recruiting An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165
Condition: Phenylketonuria
Intervention: Drug: BMN 165
40 Recruiting Evaluation of Patients With Liver Disease
Conditions: Biliary Liver Cirrhosis,;   Hemochromatosis;   Hepatitis;   Hepatolenticular Degeneration;   Liver Disease
Intervention:

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Indicates status has not been verified in more than two years