163 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
Show Display Options
RSS Create an RSS feed from your search for:
Open Studies | "Brain Diseases, Metabolic, Inborn"
Need help? See RSS Feeds
Choose a feed type:
Show studies first received on any dateShow studies that were first received in the last 14 days
Show studies last updated date on any dateShow studies that were added or modified in the last 14 days
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 Unknown  Thrombocytopathy in Gaucher Disease Patients
Conditions: Gaucher Disease;   Thrombocytopathy
Intervention:
7 Recruiting Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients
Condition: Wilson Disease
Interventions: Drug: WTX101;   Drug: Omeprazole
8 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
9 Recruiting Protein Requirements in Children With Phenylketonuria (PKU)
Condition: Phenylketonuria
Intervention: Dietary Supplement: Protein intake
10 Unknown  Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Condition: Phenylketonuria
Intervention: Drug: tetrahydrobiopterin (BH4)
11 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
12 Recruiting A Natural History Study of the Gangliosidoses
Conditions: Tay Sachs Disease;   Sandhoff Disease;   Late Onset Tay Sachs Disease
Intervention:
13 Not yet 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
14 Recruiting Mitochondrial nt3243 A>G Mutation in Taiwan
Conditions: MELAS Syndrome;   Noninsulin-dependent Diabetes Mellitus With Deafness
Intervention:
15 Not yet recruiting Taste Evaluation of Different Liquid Formulations With Eliglustat
Condition: Gaucher Disease
Intervention: Drug: eliglustat
16 Recruiting Phenylbutyrate Therapy for Maple Syrup Urine Disease
Condition: Maple Syrup Urine Disease
Interventions: Drug: Phenylbutyrate;   Drug: Placebo powder
17 Recruiting Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease
Condition: Fabry's Disease
Intervention: Drug: GZ/SAR402671
18 Recruiting Physician Initiated Request for Migalastat in Individual Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl
19 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
20 Recruiting Pompe Pregnancy Sub-Registry
Conditions: Glycogen Storage Disease Type II (GSD-II);   Pompe Disease (Late-onset);   Glycogenesis 2 Acid Maltase Deficiency
Interventions: Biological: alglucosidase alpha;   Other: No Treatment

   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