Sustained benefits of avalglucosidase alfa in late-onset Pompe disease

The novel investigational enzyme replacement therapy (ERT) avalglucosidase alfa (neoGAA) continued to show clinically meaningful improvement of pulmonary and motor function in patients with late-onset Pompe disease (LOPD) after up to 5.5 years in the NEO1/NEO-EXT studies [1].

NEO-EXT, an ongoing NEO1 extension, assesses efficacy trends of long-term neoGAA use in LOPD patients. In the open-label ascending dose study NEO1, 24 patients enrolled who were either naïve to enzyme replacement therapy (Naïve; n=10) or had received ≥9 months’ standard-of-care alglucosidase alfa (Switch; n=14). They received neoGAA 5, 10, or 20 mg/kg every other week for 6 months. In NEO-EXT, patients continued their NEO1 dose until, in 2016, they all transitioned to 20 mg/kg.

Of the 24 NEO1 participants, 19 continued to NEO-EXT (8 Naïve, 11 Switch), and 17 remained on treatment (7 Naïve, 10 Switch) at the cut-off in July 2019. Upright predicted percentage for forced vital capacity remained stable at group level and mostly at an individual level (see Table). Upright predicted percentage for maximum inspiratory pressure and maximum expiratory pressure also generally remained stable, but varied more among individual patients. Predicted percentage for 6-minute walk test (6MWT) distance remained stable among most patients in both groups. Improvement in 6MWT was observed in patients aged ≤50 years at NEO1 enrolment. NeoGAA was generally well tolerated; the safety profile in NEO1 and NEO-EXT was consistent.

Table. Estimates of linear mixed effect model – efficacy analysis set (patients who ever received 20 mg/kg avalglucosidase alfa for up to 5.5 years) [1]

6MWT, 6-minute walk test; CI, confidence interval; FVC, forced vital capacity; MEP, maximum expiratory pressure; MIP, maximum inspiratory pressure.

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   1. Schoser B, et al. Abstract EPR3110, EAN 2020.

Posted on 10 September 202023 April 2024