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

Villarreal M Solano; Claudia Yazmín Cossío Mandujano; Carmen Amor Avila-Rejon; Victor Hugo Espin; Hector Paul Quintero Montaño

doi:10.1016/j.ymgmr.2021.100769

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.

Authors

Villarreal M Solano¹, Claudia Yazmín Cossío Mandujano², Carmen Amor Avila-Rejon³, Victor Hugo Espin⁴, Hector Paul Quintero Montaño⁵

Affiliations

¹ Fundación Cardioinfantil, Bogota, Colombia.
² Hospital Para El Niño Poblano, Puebla, Mexico.
³ Departamento de Genética Humana y Biología Molecular, Facultad de Medicina de la, Universidad Veracruzana, Veracruz, Mexico.
⁴ Hospital Carlos Andrade Marín Quito, Ecuador.
⁵ Hospital Dr. Verdi Cevallos Balda, Portoviejo, Ecuador.

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.

Keywords: ERT, Enzyme replacement therapy; GAGs, glycosaminoglycans; Latin America; MPS management; MPS, Mucopolysaccharidoses; MPS-IVA; MPS-IVA, Mucopolysaccharidosis type IVA or Morquio syndrome A; MPS-VI; MPS-VI, mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome; Multi-disciplinary approaches; Online PRO dairy survey; QoL, quality of life.