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

Main Article Content

Gustavo Contreras
Carlos Estrada Serrato
Natalia García Restrepo
Martha Gómez Castro
Yaqueline Ladino Cortes
Daniel Mosquera Arango
Julie Navarrete Vargas
Rita Iris Ortega Rico
Blair Ortiz Giraldo
Gloria Liliana Porras Hurtado
Diana Ramirez Montaño
Asid Rodriguez Villanueva
Jorge Armando Rojas Martínez
Diana Sánchez Peñarete
José María Satizabal Soto
Norma Serrano
Ana Lorenza Valencia

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.

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How to Cite
Contreras, G., Estrada Serrato, C., García Restrepo, N., Gómez Castro, M., Ladino Cortes, Y., Mosquera Arango, D., … Valencia, A. L. (2024). Follow-up patterns and Multidisciplinary Clinical Approaches in Patients with Mucopolysaccharidosis Type IVA in Colombia. Pediatría, 57(1), e491. https://doi.org/10.14295/rp.v56i4.491
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References

Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics. 1994;22(3):652-4.DOI: 10.1006/geno.1994.1443. DOI: https://doi.org/10.1006/geno.1994.1443

Tomatsu S, Nishioka T, Montaño AM, Gutierrez MA, Pena OS, Orii KO, et al. Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J Med Genet. 2004;41(7):e98.DOI: 10.1136/jmg.2003.018010. DOI: https://doi.org/10.1136/jmg.2003.018010

Zhou J, Lin J, Leung WT, Wang L. A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. Intractable Rare Dis Res. 2020;9(1):1-9.DOI: 10.5582/irdr.2020.01011. DOI: https://doi.org/10.5582/irdr.2020.01011

Gómez A, Robles R, Suárez-Obando F. Estimación de las frecuencias de las mucopolisacaridosis y análisis de agrupamiento espacial en los departamentos de Cundinamarca y Boyacá. Biomédica: revista del Instituto Nacional de Salud. 2012;32.DOI: 10.7705/biomedica.v32i4.574. DOI: https://doi.org/10.7705/biomedica.v32i4.574

Pachajoa H, Acosta MA, Alméciga-Díaz CJ, Ariza Y, Diaz-Ordoñez L, Caicedo-Herrera G, et al. Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia. Am J Med Genet C Semin Med Genet. 2021;187(3):388-95.DOI: 10.1002/ajmg.c.31936. DOI: https://doi.org/10.1002/ajmg.c.31936

Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, et al. Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. Mol Genet Metab. 2018;125(1-2):18-37.DOI: 10.1016/j.ymgme.2018.05.004. DOI: https://doi.org/10.1016/j.ymgme.2018.05.004

Lavery C, Hendriksz C. Mortality in patients with morquio syndrome a. JIMD Rep. 2015;15:59-66.DOI: 10.1007/8904_2014_298. DOI: https://doi.org/10.1007/8904_2014_298

Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013;110(1-2):54-64.DOI: 10.1016/j.ymgme.2013.04.002. DOI: https://doi.org/10.1016/j.ymgme.2013.04.002

Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167a(1):11-25.DOI: 10.1002/ajmg.a.36833. DOI: https://doi.org/10.1002/ajmg.a.36833

Suarez-Guerrero JL, Gómez Higuera PJ, Arias Flórez JS, Contreras-García GA. [Mucopolysaccharidosis: clinical features, diagnosis and management]. Rev Chil Pediatr. 2016;87(4):295-304.DOI: 10.1016/j.rchipe.2015.10.004. DOI: https://doi.org/10.1016/j.rchipe.2015.10.004

Concolino D, Deodato F, Parini R. Enzyme replacement therapy: efficacy and limitations. Ital J Pediatr. 2018;44(Suppl 2):120.DOI: 10.1186/s13052-018-0562-1. DOI: https://doi.org/10.1186/s13052-018-0562-1

Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, et al. Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa. Mol Genet Metab. 2022;137(1-2):164-72.DOI: 10.1016/j.ymgme.2022.08.007. DOI: https://doi.org/10.1016/j.ymgme.2022.08.007

Long B, Tompkins T, Decker C, Jesaitis L, Khan S, Slasor P, et al. Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study. Clin Ther. 2017;39(1):118-29.e3.DOI: 10.1016/j.clinthera.2016.11.017. DOI: https://doi.org/10.1016/j.clinthera.2016.11.017

Schweighardt B, Tompkins T, Lau K, Jesaitis L, Qi Y, Musson DG, et al. Immunogenicity of Elosulfase Alfa, an Enzyme Replacement Therapy in Patients With Morquio A Syndrome: Results From MOR-004, a Phase III Trial. Clin Ther. 2015;37(5):1012-21.e6.DOI: 10.1016/j.clinthera.2014.11.005. DOI: https://doi.org/10.1016/j.clinthera.2014.11.005

Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):137.DOI: 10.1186/s13023-019-1074-9. DOI: https://doi.org/10.1186/s13023-019-1074-9

Alvear-Sedan CC, Barboza-Ubarnes, M., y Grijalba-Romero, M. Ángel. Experiencia clínica y bioquímica de las mucopolisacaridosis en Cartagena de Indias, Colombia. Revista Ciencias Biomédicas. 2020;4(1):152–8.DOI: 10.32997/rcb-2013-2765.

Instituto Nacional de Salud. Informe de evento: Enfermedades Huérfanas - Raras. Primer semestre de 2022.

Céspedes Useche LP. Una mirada imageneológica, fisiopatológica y actualizada de las enfermedades huérfanas, desde la perspectiva real del departamento del Tolima. cientific and Educational Medical Journal. 2021;2(1):206-26.DOI: 2745-0252.

Alianza Iberoamericana de Enfermedades Huérfanas (ALIBER), Salazar Ceballos LV, Quiroga Carrillo M, Mesa Correa M, Suárez Obando F. Estudio ENSERio LATAM. Estudio sobre la situación de necesidades socio-sanitarias de las personas con enfermedades raras en latinoamérica. 2023. p. 5-51.

Guerrero R, Prada SI, Pérez AM, Duarte J, Aguirre AF. Universal health coverage assessment Colombia. Global Network for Health Equity. 2015.

Vallejo Alzate N, Hurtado PM. El Síndrome de Morquio en Colombia desde la molécula a la clínica. Pediatría. 2022;54(4):146-54.DOI: 10.14295/rp.v54i4.193. DOI: https://doi.org/10.14295/rp.v54i4.193

Solano VM, Mandujano CYC, Avila-Rejon CA, Espin VH, Montaño HPQ. 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;28:100769.DOI: 10.1016/j.ymgmr.2021.100769. DOI: https://doi.org/10.1016/j.ymgmr.2021.100769

Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, et al. Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. Int J Mol Sci. 2020;21(4).DOI: 10.3390/ijms21041517. DOI: https://doi.org/10.3390/ijms21041517

Moreno Giraldo LJ, Escudero Rodriguez AM, Sanchez Gomez A, Satizabal Soto JM. Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation. Mol Genet Metab Rep. 2018;16:53-6.DOI: 10.1016/j.ymgmr.2018.06.008. DOI: https://doi.org/10.1016/j.ymgmr.2018.06.008

Moreno Giraldo LJ, Satizábal JM, Sánchez Gómez A. Variantes del Complejo MPS en población Colombiana. Revista de la Asociación Colombiana de Ciencias Biológicas. 2020:124-42.DOI: 10.47499/revistaaccb.v1i32.213. DOI: https://doi.org/10.47499/revistaaccb.v1i32.213

Romo-Erazo L, Pérez-Restrepo R, Orozco-Hernández JP, Estrada-Álvarez JM, Porras-Hurtado GL. Hallazgos ecocardiográficos de pacientes pediátricos con mucopolisacaridosis tipo IV-A con mutación c.901G>T en el gen GALNS en un centro de salud de cuarto nivel de Colombia en el periodo de 2012-2019. Medicas UIS. 2022;35:19-25.DOI: 10.18273/revmed.v35n3-2022002. DOI: https://doi.org/10.18273/revmed.v35n3-2022002

Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, et al. Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. Appl Clin Genet. 2018;11:45-57.DOI: 10.2147/tacg.S141881. DOI: https://doi.org/10.2147/TACG.S141881

Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, et al. Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. J Inherit Metab Dis. 2019;42(3):519-26.DOI: 10.1002/jimd.12079. DOI: https://doi.org/10.1002/jimd.12079

Politei J, Porras-Hurtado GL, Guelbert N, Fainboim A, Horovitz DDG, Satizábal JM. Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes. JIMD Rep. 2021;58(1):104-13.DOI: 10.1002/jmd2.12192. DOI: https://doi.org/10.1002/jmd2.12192

Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54-61.DOI: 10.1016/j.ymgme.2013.01.021. DOI: https://doi.org/10.1016/j.ymgme.2013.01.021

Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, et al. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. Orphanet J Rare Dis. 2021;16(1):464.DOI: 10.1186/s13023-021-02074-y. DOI: https://doi.org/10.1186/s13023-021-02074-y

Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32.DOI: 10.1186/1750-1172-9-32. DOI: https://doi.org/10.1186/1750-1172-9-32

Ministerio de Salud y Protección Social. Guía para la habilitación de centros de referencia de diagnóstico, tratamiento y farmacias para la atención integral de las enfermedades huérfanas y la conformación de la red y subredes de centros de referencia para su atención. In: primaria Ddpdsya, editor. 2018.

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