168 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Open Studies | "Brain Diseases, Metabolic, Inborn" (168 records)
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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 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
6 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
7 Recruiting Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Condition: Psychiatric Adults Patients
Interventions: Biological: Blood sampling;   Biological: Biopsy
8 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
9 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
10 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
11 Recruiting Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: Lentivirus Alpha-gal A transduced stem cells
12 Recruiting Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Condition: Fabry's Disease
Interventions: Device: Smartpill;   Procedure: Endoscopic Mucosal Resection and Sigmoidoscopy
13 Recruiting Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function
Condition: Fabry Disease
Interventions: Biological: PRX-102;   Biological: Agalsidase beta
14 Recruiting Genzyme Osteopenia/Osteoporosis Study
Condition: Gaucher Disease
Intervention: Other: Gaucher disease DNA mutation analysis
15 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)
16 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency/APRT
Intervention:
17 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
18 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
19 Recruiting The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment
Condition: Wilson Disease
Intervention:
20 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study

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Indicates status has not been verified in more than two years