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 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
3 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:
4 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
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 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:
7 Unknown  Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
Conditions: Mucopolysaccharidosis;   Fabry Disease
Intervention:
8 Recruiting Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Condition: Neimann-Pick Disease, Type C
Intervention:
9 Recruiting Synergistic Enteral Regimen for Treatment of the Gangliosidoses
Conditions: GM1 Gangliosidoses;   GM2 Gangliosidoses;   Tay-Sachs Disease;   Sandhoff Disease
Interventions: Drug: miglustat;   Behavioral: Ketogenic Diet
10 Recruiting Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of care therapy
11 Unknown  Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease
Condition: Fabry Disease
Intervention: Drug: recombinant alpha-galactosidase A
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 Recruiting Pharmacokinetics of Alglucosidase Alfa in Patients Aged 8-18 Years of Age
Conditions: Pompe Disease (Late-Onset);   Glycogen Storage Disease Type II (GSD II);   Glycogenesis 2;   Acid Maltase Deficiency
Intervention: Biological: alglucosidase alfa
14 Recruiting Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Condition: Pompe Disease
Interventions: Drug: Clenbuterol;   Drug: Placebo
15 Unknown  High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
Condition: Glycogen Storage Disease Type II
Intervention: Other: High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
16 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
17 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
18 Recruiting International Collaborative Gaucher Group (ICGG) Gaucher Registry
Conditions: Gaucher Disease;   Cerebroside Lipidosis Syndrome;   Glucocerebrosidase Deficiency Disease;   Glucosylceramide Beta-Glucosidase Deficiency Disease
Intervention:
19 Recruiting BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)
Condition: Late-onset Pompe Disease
Intervention: Drug: BMN 701
20 Recruiting A Long Term Follow up Study in Late-onset Pompe Disease
Condition: Pompe Disease
Intervention:

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