Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.

OBJECTIVES: To determine the impact of enzyme replacement therapy (ERT) in patients with late onset Pompe disease (LOPD) in terms of change in motor and respiratory status, along with challenges in obtaining multi-disciplinary care to manage the multi-systemic aspects of disease. METHODS: This was a retrospective chart review of patient data, collected from seven tertiary care centres across India. All patients of late onset Pompe disease that have received enzyme replacement therapy were included and a descriptive analysis of data was performed. RESULTS: Twenty two patients of LOPD were initiated on ERT and included in this data analysis, with demise of three patients and incomplete follow-up of five patients. Motor function assessment, in terms of 6 min walk test (6MW) and change in ambulatory status, showed improvement/stabilization of distance walked in 6 min for three of four patients, although one of three lost ambulation thereafter due to severe COVID infection. One patient showed gradual deterioration in 6 MW distance with 6.7% minimal detectable change for 4 patients. Fifteen percent (15%) patients lost independent ambulation over the study period. Of eight patients with pulmonary function test data before and after ERT, four showed decline while four showed stabilization of supine and sitting forced vital capacity. Three patients developed sleep disordered breathing requiring nocturnal BiPAP. Five patients were switched over to avalglucosidase alfa from alglucosidase alfa, with two patients showing improvement in PFT after switching over. CONCLUSIONS: This is the first study describing the impact of ERT in an Indian cohort of LOPD patients. It shows real world concerns of impact of chronic diseases with delay in starting therapy. It also brings to light the challenges in obtaining multi-disciplinary management. The wide variability in spectrum of presentations, early onset and faster rates of disease progression as well as high disease burden highlight the need for early initiation of therapy.

Duke Scholars

Author Priya Sunil Kishnani Pediatrics, Medical Genetics