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173 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Study Details
Participant Details
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
3 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
4 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
5 Recruiting Observational Study of Males With Creatine Transporter Deficiency
Condition: Creatine Deficiency, X-linked
6 Not yet recruiting Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: Hydroxypropyl-beta-cyclodextrin
7 Recruiting Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Condition: Urea Cycle Disorders
Interventions: Procedure: MRI;   Behavioral: Behavioral
8 Recruiting GMP Drink for PKU Study
Condition: Phenylketonuria
Intervention: Dietary Supplement: Glycomacropeptide-based protein substitute
9 Not yet recruiting Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: Hydroxypropyl-beta-cyclodextrin
10 Not yet recruiting VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Drug: VAL-1221 1 mg/kg;   Drug: VAL-1221 3 mg/kg;   Drug: VAL-1221 10 mg/kg
11 Recruiting Diagnosis of Fabry Disease: Impact of an Educational Brochure Intended for Cardiologist
Condition: Cardiomyopathies
12 Recruiting Fabry Disease in Cerebrovascular Disease
Condition: Fabry Disease
Intervention: Genetic: 26 common Fabry mutation types in Taiwan
13 Recruiting A Natural History of Late Onset Tay-Sachs Disease
Condition: GM2 Gangliosidosis
14 Recruiting A Natural History Study of Canavan Disease
Condition: Canavan Disease
15 Recruiting Study of the Prevalence of Fabry Disease in French Dialysis Patients
Conditions: Fabry Disease;   End Stage Renal Disease;   Renal Dialysis
Intervention: Biological: Dried blood spot (DBS) sampling
16 Not yet recruiting GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3
Condition: Gaucher Disease
Interventions: Drug: GZ/SAR402671;   Drug: Imiglucerase
17 Recruiting Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Condition: Psychiatric Adults Patients
Interventions: Biological: Blood sampling;   Biological: Biopsy
18 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
19 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
20 Not yet recruiting Respiratory Muscle Training in LOPD
Condition: Glycogen Storage Disease Type II
Interventions: Device: RMT therapy using modified RMT device;   Device: Sham-RMT therapy using modified RMT device

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