Distribution of repC plasmid-replication sequences among plasmids and isolates of Rhizobium leguminosarum bv. viciae from field populations

1998

International audience

Analysis of 100 HSP Exomes and Characterization of Mutations in Known Autosomal Dominant Genes (P05.166)

2012

Objective: Comprehensive screening of all known autosomal dominant HSP genes in a large cohort of patients. Background Hereditary spastic paraplegias comprise a group of clinically and genetically heterogeneous neurodegenerative disorders that share the common clinical feature of lower limb spastic paraplegia. Ten genes causing autosomal dominant HSP are known to date, together explaining about 60% of cases. Knowledge about frequency of HSP subtypes and genotype-phenotype correlation is limited by the fact that most screenings so far are biased due to phenotypic pre-selection of the study cohort or inhomogeneous a priori genetic diagnostic testing. Design/Methods: We have screened a large c…

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoG…

2019

This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, received every-other-week avalglucosidase alfa 5, 10, or 20 mg/kg over 24 weeks. 9/10 Naïve and 12/14 Switch patients completed the study. Avalglucosidase alfa was well-tolerated; no deaths…

An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease

2015