| Title: |
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group. |
| Authors: |
Concolino D; D'AMICO, Loredana; Cappellini MD; Cassinerio E; Conti M; Donati MA; FALVO, FEDERICO; Fiumara A; MACCARONE, MATTIA; Manna R; Matucci A; Musumeci MB; Nicoletti A; Nisticò R; Papadia F; Parini R; Peluso D; Pensabene L; Pisani A; Pistone G; Rigoldi M; Romani I; Tenuta M; Torti G; Veroux M; Zachara E. |
| Contributors: |
Concolino, D; D'Amico, Loredana; Cappellini, Md; Cassinerio, E; Conti, M; Donati, Ma; Falvo, Federico; Fiumara, A; Maccarone, Mattia; Manna, R; Matucci, A; Musumeci, Mb; Nicoletti, A; Nisticò, R; Papadia, F; Parini, R; Peluso, D; Pensabene, L; Pisani, A; Pistone, G; Rigoldi, M; Romani, I; Tenuta, M; Torti, G; Veroux, M; Zachara, E. |
| Publisher Information: |
Elsevier; Amsterdam |
| Publication Year: |
2017 |
| Collection: |
Sapienza Università di Roma: CINECA IRIS |
| Subject Terms: |
article; congenital malformation; Fabry disease; enzyme replacement therapy; home treatment; adherence; QoL |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
ELETTRONICO |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/5484973; info:eu-repo/semantics/altIdentifier/wos/WOS:000416897000019; issue:12; firstpage:85; lastpage:91; numberofpages:7; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; http://hdl.handle.net/11573/1091804 |
| DOI: |
10.1016/j.ymgmr.2017.06.005 |
| Availability: |
http://hdl.handle.net/11573/1091804; https://doi.org/10.1016/j.ymgmr.2017.06.005 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.7E5E5395 |
| Database: |
BASE |