Follow-up patterns and Multidisciplinary Clinical Approaches in Patients with Mucopolysaccharidosis Type IVA in Colombia

Abstract

Background: There is limited data on the follow-up and management of patients with mucopolysaccharidosis IVA (MPS-IVA) undergoing enzyme replacement therapy (ERT) in Colombia. Objective: We aim to assess the real-world data of patients with MPS-IVA undergoing ERT in Colombia to understand patient profiles, follow-up patterns, and treatment dynamics. Methods: A convenience sample of geneticists and pediatric neurologists were recruited from November-2020 to January-2021. The physicians responded to a questionnaire-based report for each patient under their care regarding the patient profiles, follow-up patterns, and treatment dynamics. Results: A total of 24 physicians (geneticists [92%] and pediatric neurologists [8%]) provided data on 107 patients with MPS-IVA. Patients were diagnosed through molecular (36%) and/or enzymatic assays (97%). The mean age of patients was 19.5 years and 51% were male. The average time from first symptom to diagnosis was 7.1 years. The mean age at first symptoms was 4 years and at diagnosis was 11 years, further, the mean age at first ERT was 15 years. There was an increase in assessments after ERT initiation; parameters most frequently evaluated were weight, height, and echocardiography; quality of life, 6MWT, and 3-minute stair-climb test were the least frequent. ERT interruptions >2 months were observed in 63% patients. Conclusions: Monitoring of MPS-IVA patients receiving ERT remains suboptimal in Colombia. Establishing national management guidelines and implementing centralized reference centers, where patients can receive comprehensive care are warranted for ensuring appropriate systems, services, and support as a priority, with a potential positive effect in the course of the disease.