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 Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
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 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
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 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
7 Recruiting Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention:
8 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
9 Recruiting Screening for Fabry Disease in a Pediatric Population at Risk
Conditions: Chronic Pain in the Extremities;   Chronic Abdominal Pain;   Fabry Disease
Intervention: Other: Screening for Fabry disease
10 Recruiting Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: Imiglucérase (drug) pharmacokinetics
11 Not yet recruiting Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
Condition: Sphingomyelin Lipidosis
Interventions: Drug: placebo (saline);   Drug: GZ402665
12 Recruiting Protein Requirements in Children With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Dietary Supplement: Protein intake
13 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:
14 Recruiting Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
15 Recruiting Taste Evaluation of Different Liquid Formulations With Eliglustat
Condition: Gaucher Disease
Intervention: Drug: eliglustat
16 Recruiting Mitochondrial nt3243 A>G Mutation in Taiwan
Conditions: MELAS Syndrome;   Noninsulin-dependent Diabetes Mellitus With Deafness
Intervention:
17 Recruiting Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency
Condition: Sphingomyelin Lipidosis
Intervention: Drug: GZ402665
18 Recruiting Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease
Condition: Fabry Disease
Intervention:
19 Recruiting Immune Tolerance Induction Study
Conditions: Pompe Disease;   Glycogen Storage Disease Type II (GSD-II);   Glycogenesis 2 Acid Maltase Deficiency
Intervention: Biological: Myozyme (alglucosidase alfa)
20 Recruiting Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Genetic: intracerebral administration of AAVrh.10cuARSA

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