ESPE2022 Poster Category 1 Growth and Syndromes (85 abstracts)
The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy
Franco Antoniazzi 1 , Maria Francesca Bedeschi 2 , Silvio Boero 3 , Dario Lidonnici 4 , Mohamad Maghnie 5 , Stefano Mora 6 , Roberto Ravasio 4 , Gioacchino Scarano 7 , Angelo Selicorni 8 , Marco Sessa 9 , Fabio Verdoni 10 & Giuseppe Zampino 11
1Dip.Scienze Chirurgiche Odontostomatologiche e Materno-Infantili, Università degli Studi di Verona, Verona, Italy; 2UOSD Genetica Medica, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy; 3UO Ortopedia, IRCCS Istituto Giannina Gaslini, Genoa, Italy; 4MA Provider Srl, Milan, Italy; 5UOC Clinica Pediatrica, Endocrinologia, Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili - DINOGMI, IRCCS Istituto Giannina Gaslini, Genoa, Italy; 6Pediatric Endocrinology, Deprtment of Pediatrics, IRCCS San Raffaele Scientific Institute, Milan, Italy; 7Clinical Genetics Unit, Monaldi Hospital, AORN Colli, Naples, Italy; 8UOC Pediatria, ASST Lariana, Como, Italy; 9Associazione per l'Informazione e lo Studio dell'Acondroplasia (AISAC), Milan, Italy; 10UO Ortopedia pediatrica, IRCCS Istituto Ortopedico Galeazzi, Milan, Italy; 11UOC Pediatria, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Univerità Cattolica del Sacro Cuore, Rome, Italy
Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondroplasia providing a basis for optimal care, differences in management approach may also be found not only between countries, but also within local/regional contexts. As for other rare diseases, data and literature are often limited, specifically at single country level. We have structured two questionnaire-based online-surveys dedicated respectively to clinicians and parents/caregivers of patients with achondroplasia (reached through AISAC patient association) previously discussed with a panel of Italian experts. The surveys consisted respectively in 39 and 36 questions aiming to understand how achondroplasia is managed in clinical practice across Italian regions, to gain insight into the patient journey, and to identify possible grey areas of improvement and differences, of structural/organisational needs. Anonymised answers collected in a Microsoft Excel database were analysed and discussed with the panel. We have collected from clinicians (18 hospitals, 25 experts) information on patient number and age, and experts involved for each step of the patient journey and their possible interactions, from diagnosis to management of complications, from limb-lengthening surgery approach to follow-up. We have collected additional information from parents/caregivers (42 surveys) from a different perspective in terms of diagnosis and its communication, patient needs, practical issues (e.g. distance from the reference center), perception of the limb-lengthening surgery, role of the patient association and of different specialists. Despite the two different perspectives, we found a number of areas of improvement overlapping between clinicians and families, such as the need to reinforce psychological support, the need for more structured multidisciplinary teams and for a better follow-up and transition to adult care. Clinicians claimed for a more active involvement of territorial services throughout the patient journey, while patients recognized issues in terms of access to care. The JAMP project provides important insight into the real-world management of achondroplasia in Italy for the first time and has the potential to help improve patient management and patient outcomes in this condition.
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