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

Mol Genet Metab Rep 2021 May 25;28:100769. doi: 10.1016/j.ymgmr.2021.100769. eCollection 2021 Sep.

PMID: 34113545

Villarreal M Solano, Claudia Yazmín Cossío Mandujano, Carmen Amor Avila-Rejon

Highlights: This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America. The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

Abstract:

Background: In Latin America, there is a dearth of real-world epidemiological data on individuals with mucopolysaccharidoses (MPS). The disease burden, management patterns, and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America were examined in this real-world study (Colombia, Ecuador, Mexico, Peru).

Methods: Between April and June 2020, data was collected from physicians/specialists with expertise treating MPS patients via an online patient-diary survey.

Results: The study enlisted the participation of 29 physicians/specialists in total. A total of 98 patients' data were examined (MPS-IVA, 71 patients and MPS-VI, 27 patients). The mean age was 17,5 years and 11,6 years for MPS-IVA and MPS-VI patients, respectively. The majority of the patients were females (52% and 78%, respectively). Patients with MPS-IVA and VI had high absenteeism from school (55% and 37%, respectively; <18 years age) and workplace (78% and 100%, respectively; >18 years age), showing that the disease had an influence on certain elements of their quality of life. For MPS-IVA patients, the first symptom appeared at the age of 3.1 years, and for MPS-VI patients, the first symptom appeared at the age of 1 year, with a delay in diagnosis (3.5-3.9 years from symptom onset) and the start of enzyme replacement therapy (ERT) (1.1-3.6 years from diagnosis). Patients with MPS-IVA (48%) and MPS-VI (44%) had ERT interruptions, with non-availability of medication being the most common reason for non-adherence (46% and 60% patients, respectively). In MPS-IVA/VI patients, ERT demonstrated significant therapeutic advantages, including a stabilization/reduction in complications or the number of surgeries. Patient management was handled by a multidisciplinary clinical team.

Conclusion: MPS-IVA/VI has a significant disease burden in Latin America, with consistent management, treatment, and socio-demographic patterns across the region.

Keywords: ERT, Enzyme replacement therapy, GAGs, glycosaminoglycans, Latin America, MPS, Mucopolysaccharidoses, MPS-IVA, Mucopolysaccharidosis type IVA or Morquio syndrome A, MPS-VI, mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome, Online PRO dairy survey