171 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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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 Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
4 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
5 Recruiting Colder Flank Study
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
6 Recruiting Thrombocytopathy in Gaucher Disease Patients
Conditions: Gaucher Disease;   Thrombocytopathy
Intervention:
7 Recruiting Extension Study for Patients Who Have Participated in a BMN 701 Study
Condition: Pompe Disease
Intervention: Biological: BMN 701
8 Recruiting Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Conditions: Phenylketonuria;   Hyperphenylalaninemia
Intervention:
9 Recruiting Exploration of Immunity in Gaucher Disease
Condition: Gaucher Disease
Intervention:
10 Not yet recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Intervention: Other: Blood sample
11 Unknown  Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease
Conditions: Gaucher's Disease;   Osteopenia
Interventions: Drug: alendronate sodium;   Drug: calcium carbonate;   Drug: cholecalciferol
12 Not yet recruiting An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112
Condition: Gaucher Disease
Intervention: Drug: PRX-112
13 Recruiting Home Therapy With Replagal in Fabry Disease
Condition: Fabry's Disease
Intervention:
14 Recruiting Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Conditions: Glucocerebrosidase Mutations;   Gaucher Disease
Intervention:
15 Unknown  Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
Condition: Pompe Disease
Intervention: Other: Drawing blood spots from Newborns
16 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia (PA);   Methylmalonic Acidemia (MMA);   Late-onset CPS1 Deficiency (CPSD);   Late-onset Ornithine Transcarbamylase Deficiency (OTCD)
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
17 Recruiting Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
Condition: Fabry Disease
Interventions: Procedure: Contrast sensitivity measurement;   Procedure: Slit Lamp assessment and intra-ocular pressure measurement;   Procedure: Visual field testing;   Procedure: Oxygen flow at the optic nerve head measurement;   Drug: Tropicamide;   Device: OSOME
18 Recruiting Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Condition: Peroxisome Biogenesis Disorders
Intervention:
19 Recruiting Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta
Condition: Fabry Disease
Intervention:
20 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome;   Unexplained Copper Deficiency
Intervention: Drug: Copper Histidine

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Indicates status has not been verified in more than two years