164 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
1 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:
2 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
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 Phenylbutyrate Therapy for Maple Syrup Urine Disease
Condition: Maple Syrup Urine Disease
Interventions: Drug: Phenylbutyrate;   Drug: Placebo powder
7 Recruiting Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Condition: Fabry's Disease
Intervention: Drug: GZ/SAR402671
8 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
9 Recruiting A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Iohexol
10 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
11 Recruiting Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Condition: Pompe Disease
Intervention: Other: Observational
12 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
13 Recruiting Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease
Condition: Fabry Disease
Intervention:
14 Recruiting A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
Conditions: Childhood Cerebral Adrenoleukodystrophy;   (X-linked Adrenoleukodystrophy Cerebral Childhood)
Interventions: Genetic: Lenti-D Drug Product;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Filgrastim
15 Unknown  Oral Glyceryl Triacetate (GTA) in Newborns With Canavan
Condition: Canavan Disease
Interventions: Dietary Supplement: GTA (Glyceryl triacetate);   Drug: GTA glyceryl triacetate
16 Not yet recruiting A Pilot Study of Pyridostigmine in Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Pyridostigmine Bromide
17 Not yet recruiting Assessment Of Liver and Spleen Fibrosis in Patients With Gaucher Disease Using Fibroscan
Condition: Fibrosis
Intervention: Device: Fibroscan
18 Recruiting Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy
Condition: Late Infantile Metachromatic Leukodystrophy
Intervention: Other: High-field MRI (3 Teslas)
19 Recruiting An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165
Condition: Phenylketonuria
Intervention: Drug: BMN 165
20 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:

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