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Antibodies anti-ERT do not influence muscle fatty infiltration in a long cohort of patients with late onset Pompe disease

2017; Elsevier BV; Volume: 27; Linguagem: Inglês

10.1016/j.nmd.2017.06.251

1873-2364

S. Figueroa-Bonaparte, Sonia Segovia, Izaskun Belmonte, I. Pedrosa, Elena Montiel, Jaume Llauger, Alicia Alonso‐Jiménez, Eduard Gallardo, Isabel Illa, Jordi Díaz‐Manera,

Trypanosoma species research and implications

Late onset Pompe disease (LOPD) is a genetic disorder characterized by progressive skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) is established as the main treatment of these patients. However, most of them develop antibodies against the recombinant enzyme administered and at present it is unknown the possible effect of antibodies in the effectiveness of the drug. We followed up a cohort of 22 LOPD patients treated with ERT during one year. We performed a group of muscle function tests, a blood analysis and a muscle MRI using quantitative 3 point Dixon of the thigh muscles at baseline and one year visit. Anti-ERT antibodies were analyzed using ELISA. Correlation between clinical or radiological progression and ERT titles was established using Pearson test. Main duration of the treatment at baseline visit in our cohort was 4.5 years (1 to 9 years). We observed a main progression on fatty infiltration of the thighs muscles of 1.7% after one year, using 3 point Dixon software (range -1.5 to 6.9%). Antibodies were detected in 18/22 patients at baseline visit and remained stable in 15 out of 22 at one year visit. We did not find a correlation between anti-ERT antibodies title at baseline or one year visit and clinical or radiological impairment at one year. Although antibodies anti-ERT were detectable in most of the treated patients, there was not a correlation between antibodies title and clinical or radiological progression in a large cohort of LOPD ERT treated patients.