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. 2024 Sep;43(3):95-101.
doi: 10.36185/2532-1900-487.

Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise

Marika Pane  1   2 , Enrico S Bertini  3 , Eleonora Russo  4 , Francesca Gatto  5 , Roberto Di Virgilio  6 , Federico Spandonaro  7 , Daniela d'Angela  7 , Barbara Polistena  7 , Margherita d'Errico  7
Affiliations

Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise

Marika Pane et al. Acta Myol. 2024 Sep.

Abstract

Objectives: Duchenne muscular dystrophy (DMD) is a heritable disorder that causes a rapid and progressive loss of ambulatory skills. There is no curative therapy for this pathology, that is currently managed with a combination of physiotherapy and pharmacological interventions limiting the progression of the disease (e.g. corticosteroids, cardiac medications). However, a new opportunity is represented by gene therapy, a promising treatment that, however, requires significant expertise during the whole delivery of care and a solid organisational infrastructure. An organisational strategy that could effectively support its delivery to DMD patients in Italy is the hub-and-spoke model. However, an accurate portrait of the present network of DMD centres of expertise in Italy and of their readiness in the delivery of gene therapy is paramount, to facilitate access to this experimental medicine in the future.

Methods: In this context, the present study aimed to map the DMD centres of expertise in Italy and later evaluate their preparedness in terms of gene therapy delivery. For this purpose, a series of items was proposed to 30 centres in Italy, of which 20 responded.

Results: After assessing the readiness of the involved centres in terms of patient preparation, therapy infusion, close surveillance, and long-term follow-up, we proposed a suitable organizational model, namely a flexible hub-and-spoke model, for the delivery of gene therapy in the Italian DMD network and solutions to tackle the challenges emerged from the survey.

Conclusion: Overall, the present study detected an adequate readiness of the Italian DMD centres of expertise, despite observing a significant room for improvement in digital infrastructures, culture, and training.

Keywords: Duchenne muscular dystrophy; delivery of care; gene therapy; healthcare management; hub-and-spoke; lean management.

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Conflict of interest statement

MP declare to have received in the last 5 years payments or honoraria for lectures, presentations, advisory board, speakers’ bureaus, manuscript writing or educational events from the following commercial sources: Sarepta, PTC, Biogen, Roche, Novartis. EB has received in the last 5 years payments or honoraria for lectures and presentations from the following commercial sources: Roche, Biogen, Novartis, Pfizer, PTC. RD and FG are employees of Pfizer; they contributed to writing and reviewing the manuscript. BP and FS declare to have received in the last 5 years payments or honoraria for lectures, presentations, speakers’ bureaus, manuscript writing or educational events from the following commercial sources: Allergan, Amgen, Astellas, Eli Lilly, Janssen Cilag, Nestle´ HS, Novartis, Novo Nordisk, Pfizer, Servier, Takeda, Teva; in addition, both received consulting fees from UCB. All other authors declare that they have no competing interests.

Figures

Figure 1.
Figure 1.
Responsibilities of hubs and spokes in the DMD patient journey of gene therapy in Italy.
See this image and copyright information in PMC

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