167 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
Hide Display Options

Display Options

Study Details
Participant Details
Identifiers
Dates
Rank Status Study
1 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
2 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:
3 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
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 Unknown  Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children
Condition: Benign Disease
Intervention:
7 Unknown  Bone Mineral Density in Adults With Hyperphenylalaninemia
Condition: Phenylketonurias
Intervention:
8 Recruiting Open-Label Phase 3 Long-Term Safety Study of Migalastat
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150mg
9 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
10 Recruiting A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorder
Intervention: Drug: RAVICTI
11 Unknown  Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)
12 Recruiting Response to Diaphragmatic Pacing in Subjects With Pompe Disease
Condition: Pompe Disease
Interventions: Other: Pulmonary function testing;   Other: Resting breathing pattern;   Other: Respiratory muscle endurance test;   Other: Phrenic nerve stimulation;   Other: Maximal inspiratory pressure;   Other: Forced expiratory testing;   Other: EMG
13 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
14 Recruiting Biomarker for GM1/GM2 - Gangliosidoses
Conditions: Gangliosidosis;   GM1-Gangliosidosis;   GM2-Gangliosidosis;   Hexosaminidase Activator Deficiency;   Tay-Sachs Disease, AB Variant;   Hexosaminidase A and B Deficiency;   Sandhoff Disease
Intervention:
15 Recruiting PKU Kuvan Imaging Study
Condition: Phenylketonuria
Intervention:
16 Recruiting Neurocognitive Outcomes in Mild Hyperphenylalaninemia Study
Conditions: Phenylketonuria;   Mild Hyperphenylalaninemia
Intervention:
17 Recruiting Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Condition: Pompe Disease
Intervention: Other: Observational
18 Unknown  Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
Conditions: Phenylketonuria;   Behavior and Behavior Mechanisms;   PAH Gene Expression
Intervention: Drug: sapropterin dihydrochloride
19 Recruiting A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Iohexol
20 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Indicates status has not been verified in more than two years