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The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys

  • Original Article
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Abstract

Purpose

This study aimed to assess the real-world management of achondroplasia in Italy.

Methods

Two online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys collected data on either patient or clinician demographics, details on diagnoses and referrals, disease complications, and views/experiences with limb lengthening surgery.

Results

In total, 42 parents/caregivers and 19 clinicians (from 18 hospitals) completed the surveys. According to parents/caregivers, achondroplasia diagnosis was most commonly made in the third trimester of gestation (55% of respondents), with a genetic test performed to confirm the diagnosis in all but one case. In contrast, the clinicians indicated that, while achondroplasia was typically suspected during the prenatal period (78%), diagnosis was more frequently confirmed postnatally (72%). Parents/caregivers reported that the greatest impact of achondroplasia-related complications occurred in their children between the ages of 2–5 years. The most significant complications were otitis, sleep apnoea, stenosis of the foramen magnum or pressure on the spinal cord, and hearing difficulties. Lengthening surgery had been presented as a treatment option to 92% of responding parents/caregivers, with 76% of clinicians viewing surgery favourably. Typically, clinicians’ reasons for suggesting limb lengthening surgery were to improve patient quality of life, increase patient autonomy and self-acceptance, improve trunk-limb disproportion, short stature and walking, and ensure that all possible treatment options had been presented to the parents/caregivers.

Conclusion

This survey provides insight into the real-world management of individuals with achondroplasia in Italy.

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Data availability

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

The authors would like to thank Marie Cheeseman who wrote the outline for this manuscript on behalf of Springer Healthcare Communications, Simone Tait, of Springer Healthcare Communications, who wrote the first draft, and Catherine Rees who provided post-submission editorial assistance on behalf of Springer Healthcare Communications. This medical writing assistance was funded by BioMarin. They would also like to thank Giorgio Casilli, Dario Lidonnici, and Paola Raimondo from MA Provider Srl for the organisational and scientific support. They would like to extend special thanks to the JAMP Group who completed the clinicians’ survey and participated in a discussion on the results of the study. Some authors are members of the European Reference Network for rare BONe Diseases (https://ernbond.eu/).

Funding

This study and associated medical writing assistance was supported by an educational grant from BioMarin Pharmaceutical Inc. BioMarin contributed to conducting the study, collecting the data, and writing the manuscript.

Author information

Authors and Affiliations

  1. Department of Woman-Child-Newborn, Medical Genetic Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

    M. F. Bedeschi

  2. Laboratory of Paediatric Endocrinology, Department of Paediatrics, IRCCS Ospedale San Raffaele, Milan, Italy

    S. Mora

  3. UO of Paediatrics, University of Verona, Verona, Italy

    F. Antoniazzi

  4. Orthopaedics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

    S. Boero

  5. PharmaLex Italy S.p.A., Milan, Italy

    R. Ravasio

  6. Azienda Ospedaliera di Rilievo Nazionale “San Pio”. P.O. “Gaetano Rummo”, Benevento, Italy

    G. Scarano

  7. UOC Pediatria, Centro Fondazione Mariani per il bambino fragile, ASST Lariana, Como, Italy

    A. Selicorni

  8. Associazione per l’Informazione e lo Studio dell’Acondroplasia (AISAC), Milan, Italy

    M. Sessa

  9. IRCCS Istituto Galeazzi di Milano, Milan, Italy

    F. Verdoni

  10. UOC Pediatria, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy

    G. Zampino

  11. Dipartimento di Scienza della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy

    G. Zampino

  12. Paediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genoa, Italy

    M. Maghnie

  13. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy

    M. Maghnie

Authors
  1. M. F. Bedeschi
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  2. S. Mora
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  3. F. Antoniazzi
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  4. S. Boero
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  6. G. Scarano
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Consortia

the JAMP Group

  • Anna Elsa Maria Allegri
  • , Massimo Cozzaglio
  • , Flavio Giordano
  • , Sara Intini
  • , Chiara Locatelli
  • , Luigi Nasto
  • , Roberta Onesimo
  • , Gianluca Piatelli
  • , Matteo Porro
  • , Oliviero Sacco
  • , Pasquale Striano
  •  & Laura Trespidi

Contributions

MFB, MS, RR, and MM contributed to conceptualization, methodology, and writing––original draft; MFB, SM, FA, SB, RR, GS, AS, MA, FV, GZ, and MM were involved in writing––review and editing. All the authors discussed their clinical experiences and have read and approved the final version for submission.

Corresponding author

Correspondence to S. Mora.

Ethics declarations

Conflict of interest

MFB is/has been a consultant for BioMarin and Sanofi. SM is/has been a consultant for BioMarin, Kyowa Kirin, Alexion, and Ascendis. FA has received research support from Merck Serono and Sandoz and is/has been a consultant for Kyowa Kirin, BioMarin, Novo Nordisk, and Abiogen Pharma. SB is/has been consultant for BioMarin, Sanofi, and Citieffe. GS is/has been a consultant for BioMarin and Lilly. AS is/has been a consultant for BioMarin (scientific boards, observational trial) and Pfizer (ongoing observational trial). MS is/has been consultant for BioMarin. GZ is receiving/has received research support from BioMarin, Pfizer, MSD, ArQule, Theracon, LabCorp, and Incyte. MM has received research support from Pfizer and Merck Serono and is/has been a consultant for Pfizer, Novo Nordisk, Merck Serono, Ferring, BioMarin, and Ascendis. RR and FV declare that they have no competing interests.

Ethical approval

The survey complied with Italian data protection laws. As this was not an investigation of clinical outcomes with any particular intervention, neither ethics committee approval nor clinical trial registration was required. No parents and caregivers of patients with achondroplasia or associated clinicians received any compensation for participation in the survey.

Consent to participate

All participants gave their informed consent for the collection and use of medical and health information in an aggregated and anonymised manner for the purposes of this research only.

Consent to publish

Not applicable.

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Bedeschi, M.F., Mora, S., Antoniazzi, F. et al. The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys. J Endocrinol Invest 47, 345–356 (2024). https://doi.org/10.1007/s40618-023-02151-y

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  • DOI: https://doi.org/10.1007/s40618-023-02151-y

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