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

Giuseppe Pistone, Luisa Amico, Torti, Rigoldi, Romani, Maria Domenica Cappellini, Maccarone, Conti, Papadia, Nicoletti, Falvo, Tenuta, Peluso, Papadia, Conti, Antonio Pisani, Conti, Musumeci, Cassinerio, Daniela ConcolinoElisabetta Zachara, Pensabene, Nisticò, Andrea Matucci, Parini, Massimiliano Veroux, Giuseppe Pistone, Raffaele Manna, Agata Fiumara, Donati, Conti, Agata Fiumara

Risultato della ricerca: Articlepeer review

17 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)85-91
Numero di pagine7
RivistaMolecular Genetics and Metabolism Reports
Stato di pubblicazionePublished - 2017

All Science Journal Classification (ASJC) codes

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