Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries

Abstract

Background There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America (Colombia, Ecuador, Mexico, Peru). Methods Data were collected from physicians/specialists experienced in treating MPS patients between April–June 2020, via an online patient-diary survey. Results Overall, 29 physicians/specialists participated in this study. Data from 98 patients were analyzed (MPS-IVA, 71 patients and MPS-VI, 27 patients). Mean age for MPS-IVA patients was 17.5 years and for MPS-VI patients was 11.6 years, and the majority were females (52% and 78%, respectively). MPS-IVA and VI patients presented a high absenteeism from school (55% and 37%, respectively; <18 years age) and workplace (78% and 100%, respectively; >18 years age), indicating an impact of the disease on some aspects of the patients' quality of life. The onset of the first symptom occurred at the age of 3.1 years for MPS-IVA patients and at 1 year for MPS-VI, with delay in diagnosis (3.5–3.9 years from symptom onset) and enzyme replacement therapy (ERT) initiation (1.1–3.6 years from diagnosis). ERT interruptions were observed for MPS-IVA (48%) and MPS-VI patients (44%), with non-availability of medication recorded as the main reason for non-adherence (46% and 60% patients, respectively). ERT showed noticeable treatment benefits in MPS-IVA/VI patients, with stabilization/reduction in complications or the number of surgeries. A multidisciplinary clinical team approach was used for patient management. Conclusion The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

“…A total of 64.1% of MPS patients who go to school or work miss an entire day every week due to ERT. High absenteeism from school or work has also been reported by Solano et al 15 in MPS-IVA and VI patients from Latin America, but mostly due to disease burden and progression, and its relation to ERT was largely unexplored. In already disadvantaged patients with sensory, motor, and/or learning disabilities, 20% absence from school or work solely due to ERT should be avoided.…”

“…Patients living in Central Anatolia (in provinces other than Ankara) and Eastern Anatolia, especially in small settlements, have a disadvantage in obtaining drug doses and continuing ERT without interruption. The study by Solano et al 15 has shown that ERT interruption due to temporary unavailability of the drug is similarly common in Latin America, but this did not differ significantly among urban and rural areas. It is possible that the apparent influence of geographical factors is confounded by economic, social, and cultural factors not addressed in our study and is probably only a part of well-known regional health disparities, 22 requiring broader socioeconomic and public health interventions for improvement.…”