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Review
. 2021 Oct 2;16(1):408.
doi: 10.1186/s13023-021-02047-1.

Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients

Anna Ambrosini  1 , Danila Baldessari  2 , Silvia Pozzi  2   3 , Manuela Battaglia  2 , Elena Beltrami  2 , Anna Maria Merico  2 , Marco Rasconi  4 , Lucia Monaco  2
Affiliations
Review

Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients

Anna Ambrosini et al. Orphanet J Rare Dis. .

Abstract

In 2001, Fondazione Telethon and the Italian muscular dystrophy patient organisation Unione Italiana Lotta alla Distrofia Muscolare joined their efforts to design and launch a call for grant applications specifically dedicated to clinical projects in the field of neuromuscular disorders. This strategic initiative, run regularly over the years and still ongoing, aims at supporting research with impact on the daily life of people with a neuromuscular condition and is centred on macro-priorities identified by the patient organisation. It is investigator-driven, and all proposals are peer-reviewed for quality and feasibility. Over the years, this funding program contributed to strengthening the activities of the Italian neuromuscular clinical network, reaching many achievements in healthcare research. Moreover, it has been an enabling factor for innovative therapy experimentation at international level and prepared the clinical ground to make therapies available to Italian patients. The ultimate scope of healthcare research is to ameliorate the delivery of care. In this paper, the achievements of the funded studies are analysed also from this viewpoint, to ascertain to which extent they have fulfilled the original goals established by the patient organisation. The evidence presented indicates that this has been a highly fruitful program. Factors that contributed to its success, lessons learned, challenges, and issues that remain to be addressed are discussed to provide practical examples of an experience that could inspire also other organizations active in the field of rare disease research.

Keywords: Healthcare research; Innovative therapies; Neuromuscular disorders; Patient empowerment; Trial readiness.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Distribution of the Italian NMD clinical centres awarded with Telethon-UILDM grants. In circles: number of centres per region
Fig. 2
Fig. 2
Diseases addressed by the funded projects. The graph indicates the number of projects addressing a specific disease/disease group or multiple diseases. Diseases are organised into 4 main broad categories, namely: (i) muscular dystrophies and myopathies; (ii) neuropathies and motor neuron diseases; (iii) metabolic myopathies; (iv) several diseases. NMD neuromuscular disorder; TTR transthyretin
Fig. 3
Fig. 3
Domains that concur to evaluate the value of the investment in healthcare research. In circles: domains with direct impact; indicated by the small arrows: domains of indirect impact
See this image and copyright information in PMC

References

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