171 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Not yet 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
22 Recruiting Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Condition: Fabry Disease
Interventions: Drug: agalsidase alfa;   Drug: Agalsidase beta
23 Not yet recruiting A Prospective and Partially Retrospective Study to Characterize Safety and Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Childhood Cerebral Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy Cerebral Childhood
Intervention: Genetic: Allogeneic Hematopoietic Stem Cell Transplantation
24 Recruiting A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency
Condition: Sphingomyelin Lipidosis
Intervention: Drug: GZ402665
25 Recruiting MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
Conditions: Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis VI;   Mucopolysaccharidosis VII;   Hurler Syndrome;   Hunter Syndrome;   Maroteaux Lamy Syndrome;   Sly Syndrome;   Glycoprotein Metabolic Disorders;   Alpha Mannosidosis;   Fucosidosis;   Aspartylglucosaminuria;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Osteopetrosis;   Rett Syndrome;   Sphingolipidosis;   Gangliosidosis;   Globoid Cell Leukodystrophy;   Metachromatic Leukodystrophy;   Niemann Pick B;   Niemann Pick C Subtype 2;   I-cell Disease
Interventions: Procedure: blood stem cell transplant;   Drug: Rabbit Anti-Thymocyte Globulin (ATG);   Drug: Fludarabine;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Cyclosporine A (CSA);   Drug: Methylprednisolone;   Drug: Mycophenolate Mofetil (MMF);   Drug: Granulocyte-Colony Stimulating Factor (G-CSF);   Drug: Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF);   Drug: N-acetylcysteine;   Drug: Celecoxib;   Drug: Vitamin E;   Drug: Alpha Lipoic Acid
26 Recruiting Biomarker for Niemann Pick Type C Disease
Conditions: Niemann-Pick Disease;   Niemann-Pick Disease, Type C
Intervention:
27 Available Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease
Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency, Type B;   Acyl-coA Dehydrogenase, Type 9
Intervention: Drug: triheptanoin
28 Recruiting Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Condition: Neimann-Pick Disease, Type C
Intervention:
29 Recruiting Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
Condition: Ornithine Transcarbamylase Deficiency
Interventions: Behavioral: MRI scanning;   Behavioral: Cognitive testing
30 Recruiting HSCT for High Risk Inherited Inborn Errors
Conditions: Adrenoleukodystrophy;   Metachromatic Leukodystrophy;   Globoid Cell Leukodystrophy;   Tay Sachs Disease;   Sandhoffs Disease;   Wolman Disease;   I-Cell Disease;   Sanfilippo Syndrome;   GM1 Gangliosidosis
Interventions: Drug: Clofarabine;   Procedure: Total body Irradiation;   Drug: Melphalan;   Biological: Hematopoietic Stem Cell Transplantation;   Drug: Alemtuzumab;   Drug: mycophenylate mofetil;   Device: Cyclosporine A;   Drug: Hydroxyurea
31 Recruiting Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients
Condition: Fabry Disease
Intervention: Drug: PRX-102
32 Recruiting Outer Thigh Study With Varied Treatment Parameters
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
33 Recruiting Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Genetic: intracerebral administration of AAVrh.10cuARSA
34 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
35 Recruiting A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Iohexol
36 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
37 Recruiting Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Condition: Pompe Disease
Intervention: Other: Observational
38 Unknown  Myocardial Affectation in Patients With Fabry Disease Without Phenotypic Manifestation. Diagnostic Value of Biomarkers
Conditions: Fabry Disease, Cardiac Variant;   Right Ventricular Hypertrophy
Intervention:
39 Unknown  Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: glucocerebrosidase
40 Recruiting Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study.
Condition: Fabry Disease
Intervention: Device: ResMed Apnea Link plus

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Indicates status has not been verified in more than two years