162 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 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 Not yet recruiting Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Condition: Glycogen Storage Disease Type II-Pompe's Disease
Interventions: Drug: GZ402666;   Drug: alglucosidase alfa (GZ419829)
6 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency/APRT
Intervention:
7 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
8 Not yet recruiting Identification of Tongue Involvement in Late-Onset Pompe Disease
Conditions: Myopathy;   Neuropathy;   Glycogen Storage Disease Type II (Late-onset Pompe Disease)
Intervention: Other: Observational study
9 Recruiting The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment
Condition: Wilson Disease
Intervention:
10 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study
11 Recruiting Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
Condition: Pompe Disease
Intervention: Other: Blood sample
12 Not yet recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
13 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
14 Not yet recruiting Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy
Conditions: Vasculopathy, Retinal, With Cerebral Leukodystrophy;   Cerebroretinal Vasculopathy, Hereditary
Intervention: Drug: aclarubicin
15 Not yet recruiting Fabry Disease Screening in ESRD Patients in West of France
Condition: ESRD
Intervention: Other: Dried blood spot test
16 Not yet recruiting Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
Condition: Hurler Syndrome, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Krabbe, Cerebral Adrenoleukodystrophy
Intervention: Drug: Umbilical cord blood transplantation with HSC835
17 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
18 Recruiting sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis
Condition: Wilsons Disease
Interventions: Procedure: Fibroscan;   Procedure: Ultrasound;   Drug: Galactose;   Procedure: Liver biopsy;   Procedure: Functional hepatic nitrogen clearance
19 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
20 Recruiting First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
Condition: Pompe Disease
Interventions: Drug: ATB200;   Drug: AT2221

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Indicates status has not been verified in more than two years