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139 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"

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Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
1 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
2 Recruiting Biomarker for Metachromatic Leukodystrophy Disease
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System
Intervention:
3 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
4 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
5 Unknown † Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
6 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression;   Other: Liver Evaluation
7 Recruiting Immune Tolerance Induction Study
Conditions: Pompe Disease;   Glycogen Storage Disease Type II (GSD-II);   Glycogenesis 2 Acid Maltase Deficiency
Intervention: Biological: Myozyme (alglucosidase alfa)
8 Recruiting Oral Glyceryl Triacetate (GTA) in Newborns With Canavan
Condition: Canavan Disease
Interventions: Dietary Supplement: GTA (Glyceryl triacetate);   Drug: GTA glyceryl triacetate
9 Recruiting Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
10 Recruiting Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Condition: Fabry Disease
Interventions: Drug: agalsidase alfa (Replagal®) and agalsidase beta (Fabrazyme®);   Drug: Enzyme Replacement Therapy (ERT)
11 Recruiting Biomarker for Niemann Pick Type C Disease
Conditions: Niemann-Pick Disease;   Niemann-Pick Disease, Type C
Intervention:
12 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Sapropterin Dihydrochloride
13 Recruiting Tissue Sample Study for Mitochondrial Disorders
Conditions: Mitochondrial Disorders;   Mitochondrial Disease;   Melas;   Kearns Sayer;   NARP;   MNGIE;   LHON;   Mitochondrial Depletion Syndrome;   Leigh's Disease
Intervention:
14 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
15 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
16 Recruiting Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease
Condition: Gaucher Disease
Intervention: Other: Bone marrow and blood sampling
17 Unknown † Examining the Immune Response in Patients With Gaucher Disease and Hepatitis B or C
Conditions: Gaucher Disease;   Hepatitis B;   Hepatitis C
Intervention:
18 Recruiting Androgenetic Alopecia in Fabry Disease
Condition: Fabry Disease
Intervention:
19 Recruiting Kuvan® in Phenylketonuria (PKU) Patients Less Than 4 Years Old
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan®;   Other: Phe-restricted diet
20 Not yet recruiting The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU
Condition: Classical Phenylketonuria(PKU)
Intervention:
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† Indicates status has not been verified in more than two years