Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

Esther Fernández-Simón, Ana Carrasco-Rozas, Eduard Gallardo, L. González-Quereda, J. Alonso-Pérez, Izaskun Belmonte, I. Pedrosa-Hernández, E. Montiel, S. Segovia, Xavier Suárez-Calvet, J. Llauger, Mercedes Mayos, Isabel Illa, Miguel Angel Barba-Romero, Joseba Barcena, Carmen Paradas, María Rosario Carzorla, Carlota Creus, J. Coll-Cantí, Manuel DíazCristina Domínguez, Roberto Fernández-Torrón, Maria José García-Antelo, Josep Maria Grau, Adolfo López de Munáin, Francisco Antonio Martínez-García, Yolanda Morgado, Antonio Moreno, Germán Morís, Miguel Angel Muñoz-Blanco, Andres Nascimento, José Luis Parajuá-Pozo, Luis Querol, Ricard Rojas, Arturo Robledo-Strauss, Íñigo Rojas-Marcos, Jose António Salazar, Mercedes Usón, J. Díaz-Manera

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Resum

© 2019 Late onset Pompe disease (LOPD) is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzyme replacement therapy (ERT) with alglucosidase alpha (rhGAA). Although most of ERT treated patients develop antibodies against rhGAA, their influence on clinical progression is not completely known. We studied the impact of anti-rhGAA antibodies on clinical progression of 25 ERT treated patients. We evaluated patients at visit 0 and, after 1 year, at visit 1. We performed several muscle function tests, conventional spirometry and quantitative muscle MRI (qMRI) using 3-point Dixon analysis of thigh muscles at both visits. We also obtained serum samples at both visits and anti-rhGAA antibodies were quantified using ELISA. Antibody titers higher than 1:200 were identified in 18 patients (72%) of our cohort. Seven patients (28%) did not develop antibodies (0 to <1:200), 17 patients (68%) developed low to intermediate titers (1:200 to <1:31,200) and 1 patient (4%) developed high titers (>1:31,200). We analyzed the effect of low and intermediate antibody titers in clinical and radiological progression. There were no differences between the results of muscle function tests, spirometry or fat fraction analyzed using qMRI between patients with and without antibodies groups at baseline. Moreover, antibody titers did not influence muscle function test, spirometry results or qMRI results at year 1 visit. Most of the LOPD patients developed antibodies against ERT that persisted over time at low or intermediate levels. However, antibodies at these low and intermediate titers might not influence clinical response to the drug.
Idioma originalEnglish
Pàgines (de-a)129-136
Nombre de pàgines8
RevistaMolecular Genetics and Metabolism
Volum128
Número1-2
DOIs
Estat de la publicacióPublicada - 6 d’ag. 2019

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