168 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 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
3 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
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 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.
7 Not yet recruiting Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
Condition: Wilson Disease
Intervention: Drug: trientine dihydrochloride
8 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
9 Recruiting A Natural History Study of the Gangliosidoses
Conditions: Tay Sachs Disease;   Sandhoff Disease;   Late Onset Tay Sachs Disease
Intervention:
10 Recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
11 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
12 Recruiting A Long-term Study for the Outcome of Pompe Disease
Condition: Pompe Disease
Intervention:
13 Recruiting Nervous System Degeneration in Glycosphingolipid Storage Disorders
Conditions: Gangliosidoses;   Gaucher Disease
Intervention:
14 Recruiting Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Genetic: intracerebral administration of AAVrh.10cuARSA
15 Not yet recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
16 Recruiting Home Therapy With VPRIV in Gaucher's Disease
Condition: Gaucher's Disease
Intervention:
17 Recruiting Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients
Condition: Fabry Disease
Intervention: Drug: PRX-102
18 Recruiting Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Salbutamol
19 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome;   Unexplained Copper Deficiency
Intervention: Drug: Copper Histidine
20 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

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Indicates status has not been verified in more than two years