المساهمون: Mark Tarnopolsky, Professor

المصدر: Multi-ingredient Supplementation as an Adjunctive Therapy in Late-onset Pompe Disease

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT06130228Test

المؤلفون: Takeda

المصدر: Doheny D, Srasan R, Pagant S, Chen B, Yasuda M, Desnk RJ. Fabry Dease: prevalence of affected males and heterozygotes wh pathogen GLA mutatns entd by screeng renal, cardc and stroke cls, 1995-2017. J Med Genet. 2018 Apr;55(4):261-268. do 10.1136/jmedgenet-2017-105080. Epub 2018 Jan 12.
K WS, K HS, Sh J, Park JC, Yoo HW, Takenaka T, TeC. Prevalence of Fabry Dease Korean Men wh Left Ventrular Hypertrophy. J Korean Med Sc 2019 Feb 15;34(7):e63. do 10.3346/jkms.2019.34.e63. eCollectn 2019 Feb 25.
Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04943991Test

المصدر: A Multicenter, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects With Fabry Disease

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04455230Test

المصدر: Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04399694Test

المؤلفون: University Hospital, Caen

المصدر: A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04393701Test

المؤلفون: Ospedale San Raffaele

المصدر: An Open Label, Non-randomized Trial to Evaluate the Safety and Efficacy of a Single Infusion of OTL-200 in Patients With Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD).

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04283227Test

المؤلفون: Sanofi

المصدر: Complement Activation in the Lysosomal Storage Disorders

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04189601Test

المصدر: Phase 1/2, Dose-escalation Study to Evaluate the Safety, Tolerability and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults With Late-onset Pompe Disease

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04093349Test

Other URLs: https://resolutestudy.comTest/

المصدر: A Phase 1/2, Baseline-controlled, Non-randomized, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04040049Test

المؤلفون: California Institute for Regenerative Medicine (CIRM), Cystinosis Research Foundation

المساهمون: Stephanie Cherqui, Professor

المصدر: Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol Ther. 2013 Feb;21(2):433-44. doi: 10.1038/mt.2012.214. Epub 2012 Oct 23.
Naphade S, Sharma J, Gaide Chevronnay HP, Shook MA, Yeagy BA, Rocca CJ, Ur SN, Lau AJ, Courtoy PJ, Cherqui S. Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes. Stem Cells. 2015 Jan;33(1):301-9. doi: 10.1002/stem.1835.
A Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral Vector and Will Include Transduction Enhancer When Required During Manufacturing

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT03897361Test