166 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
1 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
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 Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
4 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:
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 Not yet recruiting Alglucosidase Alfa Pompe Safety Sub-Registry
Condition: Pompe Disease
Intervention: Biological: Alglucosidase alfa
7 Recruiting Evaluation of Patients With Liver Disease
Conditions: Biliary Liver Cirrhosis,;   Hemochromatosis;   Hepatitis;   Hepatolenticular Degeneration;   Liver Disease
Intervention:
8 Not yet recruiting An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112
Condition: Gaucher Disease
Intervention: Drug: PRX-112
9 Recruiting Home Therapy With Replagal in Fabry Disease
Condition: Fabry's Disease
Intervention:
10 Recruiting Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Conditions: Glucocerebrosidase Mutations;   Gaucher Disease
Intervention:
11 Recruiting Inhibitory rTMS in Dystonic Wilson Patients
Conditions: Wilson Disease;   Movement Disorders;   Repetitive Transcranial Magnetic Stimulation
Interventions: Device: Repetitive Transcranial Magnetic Stimulation (rTMS);   Other: pre and post-rTMS electroencephalogram;   Other: WCRS;   Other: handwriting scale DPRE;   Other: visual analog scale of discomfort writing and parameters collected on touchpad
12 Recruiting Phenylbutyrate Therapy for Maple Syrup Urine Disease
Condition: Maple Syrup Urine Disease
Interventions: Drug: Phenylbutyrate;   Drug: Placebo powder
13 Recruiting Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Condition: Fabry's Disease
Intervention: Drug: GZ402671
14 Recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
15 Recruiting Exploration of Immunity in Gaucher Disease
Condition: Gaucher Disease
Intervention:
16 Unknown  Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease
Conditions: Gaucher's Disease;   Osteopenia
Interventions: Drug: alendronate sodium;   Drug: calcium carbonate;   Drug: cholecalciferol
17 Recruiting Pompe Lactation Sub-Registry
Conditions: Glycogen Storage Disease;   Pompe Disease
Intervention: Biological: alglucosidase alfa
18 Not yet recruiting A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)
Condition: Late-onset Pompe Disease
Intervention: Procedure: Respiratory muscle strength measurements by different techniques.
19 Recruiting Open-Label Phase 3 Long-Term Safety Study of Migalastat
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150mg
20 Unknown  Bone Mineral Density in Adults With Hyperphenylalaninemia
Condition: Phenylketonurias
Intervention:

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Indicates status has not been verified in more than two years