168 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
Show Display Options
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 Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
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 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
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 Not yet recruiting Taste Evaluation of Different Liquid Formulations With Eliglustat
Condition: Gaucher Disease
Intervention: Drug: eliglustat
7 Recruiting Mitochondrial nt3243 A>G Mutation in Taiwan
Conditions: MELAS Syndrome;   Noninsulin-dependent Diabetes Mellitus With Deafness
Intervention:
8 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
9 Recruiting Tissue Sample Study for Mitochondrial Disorders
Conditions: Mitochondrial Disorders;   Mitochondrial Disease;   Melas;   Kearns Sayer;   NARP;   MNGIE;   LHON;   Mitochondrial Depletion Syndrome;   Leigh's Disease
Intervention:
10 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
11 Recruiting Open-Label Phase 3 Long-Term Safety Study of Migalastat
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150mg
12 Unknown  Bone Mineral Density in Adults With Hyperphenylalaninemia
Condition: Phenylketonurias
Intervention:
13 Recruiting Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies
Condition: Pompe Disease
Intervention:
14 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
15 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
16 Recruiting Physician Initiated Request for Migalastat in Individual Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl
17 Unknown  Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: glucocerebrosidase
18 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
19 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:
20 Recruiting Nervous System Degeneration in Glycosphingolipid Storage Disorders
Conditions: Gangliosidoses;   Gaucher 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