Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study.
M TardieuBrigitte ChabrolA CanoC HoebekeD BernouxV GoetzS PichardA BrassierM SchiffF FeilletP RollierK MentionD DobbelaereA FouilhouxC Espil-TarisD EyerF HuetU Walther-LouvierM BarthL ChevretA KusterJ LefrancJ NeveuG PiteletJ RoparsF RivierAgathe RoubertieG TouatiC VanhulleE TardieuC CaillaudR FroissartM ChampeauxF LabartheB ChabrolPublished in: European journal of neurology (2023)
This study reported the long term follow-up of one of the largest cohort of classical IOPD patients and demonstrated high mortality and morbidity rates at long term with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance to develop new therapeutic approaches targeting various aspects of pathogenesis.