OBJECTIVES

In Latin America, the scarcity of data describing Late Onset Pompe Disease (LOPD) patients yields a high level of uncertainty for policymakers. We aim to describe the LOPD patient population characteristics and outcomes after enzyme replacement therapy (ERT) in order to support policy decisions.

METHODS

We present Pompe Registry data (NCT00231400, sponsor: Sanofi Genzyme) comparing LOPD patients in Latin America (LA) and the rest of the world (RoW), including demographics and clinical characteristics. Baseline assessments were those reported prior to initiation of ERT and up to three months following initiation, while two year follow up assessments were those closest to two years following baseline but may include assessments up to one year before or after.

RESULTS

There were 18 male and 20 female ERT-treated LOPD patients in LA and 700 male and 690 female patients in RoW. Mean (SD) age at symptom onset was 26.3 (16.25) years in LA and 30.0 (18.66) years in RoW. Mean (SD) age at diagnosis was 32.6 (18.08) years in LA and 35.8 (20.06) years in RoW. For LA, there were too few patients with data on clinical characteristics to sufficiently describe them. For RoW patients at baseline, 8.2% had received invasive ventilation, 67.0% (upright) and 81.3% (supine) had Forced Vital Capacity (FVC)<80%, 61.2% had muscle weakness evidenced by MMT (denominators were patients not missing information). For RoW patients at 2 years of follow up, 8.7% had a >20% decline in the six-minute walk test and 22.7% had a >10% decline in upright FVC.

CONCLUSIONS

Given small numbers on assessments for patients in LA, it is not feasible to comment directly on the comparability of symptom severity as assessed by summary statistics comparing the populations. Nonetheless, information on sex, age of onset and diagnosis were generally similar in LA and RoW.