676P Impact of Discontinuation and Reintroduction of Alglucoidase Alpha in Patients with Late-Onset Pompe Disease
Neuromuscular Disorders（2024）SCI 4区
Univ Belgrade | Univ Clin Ctr Serbia
Abstract
Late-onset Pompe disease (LOPD) is a progressive autosomal recessive muscle disorder caused by mutations in the GAA gene. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) is the first treatment registered for LOPD. To prospectively monitor the impact of ERT discontinuation and reintroduction in LOPD. The study included five LOPD patients undergoing ERT at our institution (3 males, mean age at onset 32.2±12.9 years, at diagnosis 42.2±14.4 years, at start of ERT 43.4±14.5 years). Until discontinutation of ERT 4.6±2.3 years passed and ERT was interrupted for 54.2±8.0 days due to drug unavailability. Following outcome measures were used: Medical Research Council sum score (MRC-SS), 6-minute walk test (6MWT), forced vital capacity (FVC), Rotterdam Handicap Scale (RHS), Fatique Severity Scale (FSS) and SF-36. Patients were tested at ERT introduction, before ERT interruption, just before ERT reintroduction, two and six months after ERT reintroduction. Slow improvement of MRC-SS was observed during ERT, followed by stabilization during ERT interruption with further improvement two to six months after ERT reintroduction (p<0.05). Decrease in 6MWT distance worsened after ERT discontinuation and during first two month of therapy reintroduction, while it improved between month 2 and 6 after reintroduction (p<0.05). FVC decline was deepened during ERT interruption, but it slowed during the first two month of ERT reintroduction, and started to improve between month 2 and 6 of ERT reintroduction although it has never reached previous level (p<0.01). RHS and FSS did not show statistically significant changes. Reintroduction of ERT improved Role Physical score of SF-36 after two months (p<0.05). Our study showed clear efficacy of ERT even after 4.5 years, since therapy discontinuation of only two months lead to LOPD worsening. ERT reintroduction caused slow improvement after two months with further improvement until 6 months of follow-up.
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