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168 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 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 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 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
7 Recruiting Prevalence of Fabry Disease in a Defined Population at Risk - Patients Formerly Diagnosed With Multiple Sclerosis
Condition: Multiple Sclerosis
Intervention:
8 Unknown  Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Conditions: Mevalonic Aciduria;   Mevalonate Kinase Deficiency;   Immune System Diseases;   Periodic Fever Syndromes, Hereditary;   Lipid Metabolism, Inborn Errors
Intervention:
9 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
10 Recruiting Clinical and Basic Investigations Into Erdheim Chester Disease
Conditions: Myelofibrosis;   Gaucher Disease;   Pulmonary Fibrosis;   Hermansky-Pudlak Syndrome (HPS);   Cancer
Intervention:
11 Recruiting Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
Condition: Phenylketonuria
Interventions: Drug: Sapropterin;   Drug: Placebo
12 Recruiting The Natural History of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention:
13 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
14 Recruiting Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Conditions: Glucocerebrosidase Mutations;   Gaucher Disease
Intervention:
15 Recruiting Home Therapy With Replagal in Fabry Disease
Condition: Fabry's Disease
Intervention:
16 Recruiting A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction
Conditions: Pompe Disease;   Hypersensitivity Reaction
Interventions: Procedure: Blood collection for anti-GAA antibody level;   Procedure: Punch Muscle Biopsy;   Behavioral: Survey;   Drug: Zavesca® 100 mg;   Drug: Zavesca® 300 mg
17 Recruiting Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency;   Ornithine Transcarbamylase Deficiency;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
18 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
19 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:
20 Recruiting Nitric Oxide Supplementation in Argininosuccinic Aciduria
Conditions: Argininosuccinic Aciduria;   Argininosuccinate Lyase Deficiency;   Urea Cycle Disorders
Interventions: Dietary Supplement: Nitric oxide supplement;   Dietary Supplement: Placebo

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