Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

D. Concolino, L. Amico, M. D. Cappellini, E. Cassinerio, M. Conti, M. A. Donati, F. Falvo, A. Fiumara, M. Maccarone, R. Manna, A. Matucci, M. B. Musumeci, A. Nicoletti, R. Nisticò, F. Papadia, R. Parini, D. Peluso, L. Pensabene, A. Pisani, G. PistoneM. Rigoldi, I. Romani, M. Tenuta, G. Torti, M. Veroux, E. Zachara

Research output: Contribution to journalArticle

Abstract

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months–4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p < 0,007), while it remained stable between the first home therapy infusion and last follow up. Interestingly, 4 out of 7 (57%) patients, showing an improvement in FD-related clinical status after starting home therapy, had previously a sub-optimal compliance to treatment during the period of hospital treatment management. Only 4 adverse non serious reactions (0,093%) were reported totally in 2 patients during home treatment. We conclude that home infusions in eligible patients with FD are safe, contribute to improve treatment compliance and therapeutic clinical outcomes, and may have a positive impact on self-perceived QoL.

Original languageEnglish
Pages (from-to)85-91
Number of pages7
JournalMolecular Genetics and Metabolism Reports
Volume12
DOIs
Publication statusPublished - Sep 1 2017

Keywords

  • Adherence
  • Enzyme replacement therapy
  • Fabry disease
  • Home treatment
  • QoL

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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  • Cite this

    Concolino, D., Amico, L., Cappellini, M. D., Cassinerio, E., Conti, M., Donati, M. A., Falvo, F., Fiumara, A., Maccarone, M., Manna, R., Matucci, A., Musumeci, M. B., Nicoletti, A., Nisticò, R., Papadia, F., Parini, R., Peluso, D., Pensabene, L., Pisani, A., ... Zachara, E. (2017). Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group. Molecular Genetics and Metabolism Reports, 12, 85-91. https://doi.org/10.1016/j.ymgmr.2017.06.005