0000000000597783
AUTHOR
Sabrina Sacconi
NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat avalglucosidase alfa dosing (5, 10, or 20 mg/kg qow) for 6 months were evaluated in NEO1 (NCT01898364) in late-onset Pompe disease patients either treatment-naive (Naive) or having received alglucosidase alfa for ≥9 months (Switch). In NEO-EXT (NCT02032524), an ongoing NEO1 extension, long-term safety and pharmacokinetics of repeat avalglucosidase alfa dosing will be monitored over 6 years. Interim safety results after 4.5 years of NEO-EXT are reported here. Mean ages at NEO1 enrollment were: Naive: 44.8 (SD:20.3, range:20-78) years and Switch: 46.7 (SD:14.1, range:21-68) years. Of the 24 NEO1 parti…
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
International audience; BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.METHODS: We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (\textgreater18y) from the DM-Scope nationwide registry and obser…
A phase I/II clinical trial of autologous myoblast transplantation in facioscapulohumeral muscular dystrophy
International audience; Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most frequent adult myopathies (1/20.000), with selective involvement of specific groups of muscles : facial, scapular fixator, anterior foreleg muscles, abdominal and humeral muscles. Vastus lateralis (VL) is usually spared clinically until late stages of the disease, and myoblasts grown from VL have similar behaviour in vivo and in vitro than myoblasts from control patients-> Proposal:Transplantation of autologous myoblast from spared muscle (VL) into an affected muscle as the Tibialis anterior (TA) muscle could locally improve the muscle’s regenerative capacities. Results and discussion: Cell prod…