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Found 124 studies with search of: 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 Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
3 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
4 Unknown † Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
5 Recruiting Liver Cell Transplant for Phenylketonuria
Condition: Phenylketonuria
Interventions: Radiation: Preparative Radiation Therapy;   Procedure: Hepatocyte Transplant;   Drug: Immunosuppression
6 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)
7 Recruiting Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Intervention: Biological: BMN 701
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 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)
10 Recruiting Biomarker for Niemann Pick Type C Disease
Conditions: Niemann-Pick Disease;   Niemann-Pick Disease, Type C
Intervention:
11 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Sapropterin Dihydrochloride
12 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
13 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
14 Recruiting Cellular and Molecular Mechanisms Governing Bone Marrow Stem Cells in Gaucher Disease
Condition: Gaucher Disease
Intervention: Other: Bone marrow and blood sampling
15 Recruiting Examining the Immune Response in Patients With Gaucher Disease and Hepatitis B or C
Conditions: Gaucher Disease;   Hepatitis B;   Hepatitis C
Intervention:
16 Recruiting Androgenetic Alopecia in Fabry Disease
Condition: Fabry Disease
Intervention:
17 Recruiting Kuvan® in Phenylketonuria (PKU) Patients Less Than 4 Years Old
Condition: Phenylketonuria (PKU)
Interventions: Drug: Kuvan®;   Other: Phe-restricted diet
18 Recruiting Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
Conditions: Sickle Cell Disease;   Thalassemia;   Anemia;   Granuloma;   Wiskott-Aldrich Syndrome;   Chediak Higashi Syndrome;   Osteopetrosis;   Neutropenia;   Thrombocytopenia;   Hurler Disease;   Niemann-Pick Disease;   Fucosidosis
Intervention: Procedure: Hematopoietic stem cell transplantation
19 Not yet recruiting The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease
Condition: Gaucher Disease
Interventions: Drug: Cerezyme®;   Drug: ISU302
20 Recruiting Genetic Studies of Lysosomal Storage Disorders
Conditions: Gaucher's Disease;   Lysosomal Storage Disease
Intervention:

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