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171 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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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 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 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 Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease
Condition: Fabry Disease
Intervention:
7 Recruiting A Natural History Study of the Gangliosidoses
Conditions: Tay Sachs Disease;   Sandhoff Disease;   Late Onset Tay Sachs Disease
Intervention:
8 Recruiting Physician Initiated Request for Migalastat in Individual Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl
9 Unknown  High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
Condition: Glycogen Storage Disease Type II
Intervention: Other: High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
10 Recruiting Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Condition: Pompe Disease
Interventions: Drug: Clenbuterol;   Drug: Placebo
11 Recruiting Pharmacokinetics of Alglucosidase Alfa in Patients Aged 8-18 Years of Age
Conditions: Pompe Disease (Late-Onset);   Glycogen Storage Disease Type II (GSD II);   Glycogenesis 2;   Acid Maltase Deficiency
Intervention: Biological: alglucosidase alfa
12 Unknown  The Effect of a Coloring Prompt on Health Engagement
Conditions: In Need of a Pap Smear (Cervical Cancer Screening);   In Need of a Blood Pressure Check (Hypertension Screening);   In Need of a Cholesterol Test (Lipid Disorder Screening);   In Need of a Fasting Plasma Glucose Test (Diabetes)
Interventions: Behavioral: Planning Prompt;   Behavioral: Control Condition
13 Unknown  Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease
Condition: Fabry Disease
Intervention: Drug: recombinant alpha-galactosidase A
14 Recruiting Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Conditions: Urea Cycle Disorders, Inborn;   Other Metabolic Diseases
Interventions: Dietary Supplement: montmorillonite 5 g;   Dietary Supplement: montmorillonite 3 g;   Dietary Supplement: Montmorillonite 1 g
15 Recruiting PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Conditions: Phenylketonuria;   Hyperphenylalaninaemia
Intervention: Drug: Kuvan
16 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:
17 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
18 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:
19 Recruiting Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
Conditions: Mucopolysaccharidosis;   Fabry Disease
Intervention:
20 Not yet recruiting A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
Condition: Late-onset Pompe Patients Untreated or Treated With rhGAA.
Intervention:

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