Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
148 studies found for:    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 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy;   Batten Disease;   Mucopolysaccharidosis II;   Leukodystrophy, Globoid Cell;   Leukodystrophy, Metachromatic;   Neimann Pick Disease;   Pelizaeus-Merzbacher Disease;   Sandhoff Disease;   Tay-Sachs Disease;   Brain Diseases, Metabolic, Inborn
Intervention: Biological: DUOC-01
4 Recruiting Natural History Study of Children With Metachromatic Leukodystrophy
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Brain Diseases, Metabolic;   Brain Diseases;   Central Nervous System Diseases;   Nervous System Diseases;   Sulfatidosis;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System;   Leukoencephalopathies;   Demyelinating Diseases;   Metabolism, Inborn Errors;   Genetic Diseases, Inborn;   Lipidoses;   Lipid Metabolism, Inborn Errors;   Lysosomal Storage Diseases;   Metabolic Diseases;   Lipid Metabolism Disorders
Intervention: Other: Natural History Study of Children With Metachromatic Leukodystrophy
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 Recruiting NeoGAA Extension Study
Condition: Glycogen Storage Disease Type II Pompe Disease
Intervention: Drug: GZ402666
7 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
8 Recruiting Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
Condition: Fabry Disease
Intervention:
9 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
10 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:
11 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)
12 Recruiting Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Conditions: Urea Cycle Disorders, Inborn;   Other Metabolic Diseases
Interventions: Dietary Supplement: montmorillonite 5 g;   Dietary Supplement: montmorillonite 3 g;   Dietary Supplement: Montmorillonite 1 g
13 Unknown  Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease
Condition: Fabry Disease
Intervention: Drug: recombinant alpha-galactosidase A
14 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
15 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
16 Recruiting A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency
Condition: Sphingomyelin Lipidosis
Intervention: Drug: GZ402665
17 Recruiting Biomarker for Niemann Pick Type C Disease
Conditions: Niemann-Pick Disease;   Niemann-Pick Disease, Type C
Intervention:
18 Recruiting Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Condition: Fabry Disease
Interventions: Drug: agalsidase alfa;   Drug: Agalsidase beta
19 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
20 Recruiting Betaine and Peroxisome Biogenesis Disorders
Condition: Peroxisome Biogenesis Disorder (PBD)
Intervention: Drug: Betaine

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