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Found 75 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 Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
3 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
4 Recruiting Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
5 Recruiting Immune Tolerance Induction Study
Conditions: Pompe Disease;   Glycogen Storage Disease Type II (GSD-II);   Glycogenesis 2 Acid Maltase Deficiency
Intervention: Biological: Alglucosidase alfa
6 Recruiting Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
Condition: Fabry Disease
Interventions: Drug: migalastat hydrochloride;   Drug: Placebo
7 Recruiting A Study of Genz-112638 in Patients With Gaucher Disease(ENGAGE)
Condition: Gaucher Disease, Type 1
Interventions: Drug: Genz-112638;   Drug: Placebo
8 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)
9 Recruiting PKUDOS: PKU Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Sapropterin Dihydrochloride
10 Recruiting Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Gene Transfer: Ornithine transcarbamylase vector
11 Recruiting A Study of the Effects of Fabrazyme on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants
Condition: Fabry Disease
Intervention: Biological: agalsidase beta, Fabrazyme
12 Recruiting Viennese Prevalence Study of Anderson-Fabry Disease
Conditions: Fabry Disease;   Left Ventricular Hypertrophy
Intervention:
13 Recruiting A Study of Genz-112638 in Patients With Gaucher Disease Who Have Been Stabilized on Cerezyme
Condition: Gaucher Disease, Type 1
Interventions: Drug: Genz-112638;   Biological: Cerezyme
14 Recruiting Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria
Condition: Phenylketonuria
Interventions: Dietary Supplement: high oleic sunflower oil;   Dietary Supplement: microalgal oil
15 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
16 Recruiting Genetic Studies of Lysosomal Storage Disorders
Conditions: Gaucher's Disease;   Lysosomal Storage Disease
Intervention:
17 Recruiting A Study of Two Fabrazyme Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
Condition: Fabry Disease
Intervention: Biological: Fabrazyme (agalsidase beta)
18 Recruiting Study of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo's Oil) Therapy in Male Children With Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate
19 Recruiting Enzyme Replacement Therapy in Fabry Disease
Condition: Fabry Disease
Intervention: Other: Biochemical analyses.
20 Recruiting Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)

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