172 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 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 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 Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 Not yet recruiting Study of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) to Treat Niemann-Pick Type C1 (NPC1) Disease
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: HP-β-CD;   Drug: Sham Procedure Control
7 Recruiting The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
Conditions: Gaucher Disease Type 1;   Gaucher Disease Type 3
Intervention: Drug: Velaglucerase alfa
8 Not yet recruiting Prevalence of Pompe's Disease in Respiratory Clinics
Condition: Pompe's Disease
Intervention: Other: Prospective observational study
9 Recruiting Immune Modulation Therapy for Pompe Disease
Condition: Pompe Disease
Interventions: Drug: Rituximab;   Drug: intravenous immune globulin;   Drug: Bortezomib;   Drug: Methotrexate
10 Recruiting Miglustat on Gaucher Disease Type IIIB
Condition: Gaucher Disease
Interventions: Drug: Miglustat;   Drug: ERT
11 Recruiting Intervention and Outcomes in Duarte Galactosemia
Condition: Duarte Galactosemia
Intervention:
12 Recruiting Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: GZ/SAR402671
13 Recruiting Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
Condition: Urea Cycle Disorders
Intervention: Biological: HepaStem
14 Recruiting Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
Condition: Fabry's Disease
Intervention:
15 Not yet recruiting A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
Condition: Phenylketonuria
Intervention: Other: Administration of CANTAB and Subject Global Assessment
16 Recruiting Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Conditions: Fabry's Disease;   Chronic Pain
Intervention: Genetic: Diagnosis of Fabry disease
17 Recruiting Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Condition: Phenylketonuria (PKU)
Interventions: Dietary Supplement: Phenylketonuria-type diet;   Other: Normal (control) diet
18 Not yet recruiting Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study
Conditions: Gaucher Disease Type I;   Oxidative Stress
Intervention:
19 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
Intervention:
20 Not yet recruiting A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
Condition: Niemann-Pick Disease, Type C
Intervention:

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Indicates status has not been verified in more than two years