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549 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Recruiting Diagnosis of Fabry Disease: Impact of an Educational Brochure Intended for Cardiologist
Condition: Cardiomyopathies
22 Recruiting Fabry Disease in Cerebrovascular Disease
Condition: Fabry Disease
Intervention: Genetic: 26 common Fabry mutation types in Taiwan
23 Recruiting A Natural History of Late Onset Tay-Sachs Disease
Condition: GM2 Gangliosidosis
24 Recruiting A Natural History Study of Canavan Disease
Condition: Canavan Disease
25 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
26 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
27 Recruiting Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Condition: Psychiatric Adults Patients
Interventions: Biological: Blood sampling;   Biological: Biopsy
28 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
29 Completed The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage?
Condition: CADASIL
Intervention: Other: No intervention
30 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
31 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
32 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
33 Recruiting Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Condition: Fabry's Disease
Interventions: Device: Smartpill;   Procedure: Endoscopic Mucosal Resection and Sigmoidoscopy
34 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
35 Recruiting Genzyme Osteopenia/Osteoporosis Study
Condition: Gaucher Disease
Intervention: Other: Gaucher disease DNA mutation analysis
36 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)
37 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency
38 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
39 Completed Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Drug: ISU302
40 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

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