Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting
543 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Recruiting Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Condition: Psychiatric Adults Patients
Interventions: Biological: Blood sampling;   Biological: Biopsy
22 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
23 Completed The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage?
Condition: CADASIL
Intervention: Other: No intervention
24 Recruiting Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study)
Condition: Pompe Disease
Intervention: Drug: glucosidase alfa
25 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
26 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
27 Recruiting Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Condition: Fabry's Disease
Interventions: Device: Smartpill;   Procedure: Endoscopic Mucosal Resection and Sigmoidoscopy
28 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
29 Recruiting Genzyme Osteopenia/Osteoporosis Study
Condition: Gaucher Disease
Intervention: Other: Gaucher disease DNA mutation analysis
30 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)
31 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency
Intervention:
32 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
33 Completed Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Drug: ISU302
34 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
35 Recruiting The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment
Condition: Wilson Disease
Intervention:
36 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study
37 Completed Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone 10 mg Tablet High Compritol;   Drug: Orfadin
38 Completed Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone Baked Tablet;   Drug: Orfadin
39 Completed Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
40 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

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