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Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy

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Abstract

Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple specialists. It is important to understand the challenges faced by patients and their caregiver up to and after a diagnosis of alpha-mannosidosis. In this report, we describe the process of alpha-mannosidosis diagnosis and treatment from the caregivers’ and physicians’ perspectives. For the caregivers’ perspective, the mothers of two patients with alpha-mannosidosis (‘Adele’ aged 35 years and ‘Amedeo’ aged 40 years) were interviewed in their homes in Italy, and anonymized transcripts were used to describe their experiences. Adele lived in a large city with access to hospitals and specialized centers and was diagnosed with alpha-mannosidosis before 3 years of age. Amedeo was from a small village and was diagnosed when he was 10–11 years old. In both cases, their mothers sought help from pediatricians and other specialists for recurrent infections and delayed speech and motor development in the first years of their lives, but diagnosis was delayed. Although the diagnostic pathway was concerning and frustrating for her mother, Adele was able to live at home and receive multidisciplinary care and psychosocial support locally, but the transition from pediatric to adult services was difficult. She is currently waiting for access to enzyme replacement therapy. Amedeo had to travel widely and frequently to receive a diagnosis and access supportive treatment. The cumulative morbidity resulting from the delays and poor access to care necessitated long-term residential care. From the physicians’ perspective, greater awareness of alpha-mannosidosis is required among healthcare professionals and more support is needed for patients and caregivers, particularly those living in rural areas or small centers.

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Acknowledgements

We thank the patients and their families for being involved in these interviews.

Funding:

The interviews described in this report were conducted by ELMA Research with funding from Chiesi Farmaceutici S.p.A. The journal’s Rapid Service Fee was also funded by Chiesi Farmaceutici S.p.A.

Medical Writing and Editorial Assistance:

Editorial assistance in the preparation of this article was provided by Marion Barnett and Joanne Dalton on behalf of Springer Healthcare Communications. Support for this assistance was funded by Chiesi Farmaceutici S.p.A.

Authorship:

All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work as a whole, and have given their approval for this version to be published.

Prior Presentation:

Previously presented at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, 3–6 September 2019, Rotterdam, The Netherlands.

Disclosures:

Rossana Rocco and Silvia Rossi are employees of Chiesi Farmaceutici; Ludovico L. Sicignano, Elena Verrecchia, Gabriella Silvestri, Maria Grazia Massaro and Raffaele Manna have nothing to disclose.

Compliance with Ethics Guidelines:

The patients and their families provided their informed consent to participate in the interviews described in this report, and for their responses to be published.

Data Availability:

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

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Authors and Affiliations

  1. UOC Continuità Assistenziale, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Elena Verrecchia, Ludovico L. Sicignano & Maria Grazia Massaro

  2. Chiesi Farmaceutici S.P.A., Parma, Italy

    Rossana Rocco & Silvia Rossi

  3. Institute Of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Gabriella Silvestri

  4. Periodic Fevers and Rare Diseases Research Centre, Università Cattolica del Sacro Cuore, Rome, Italy

    Raffaele Manna

Authors
  1. Elena Verrecchia
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  2. Ludovico L. Sicignano
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  3. Maria Grazia Massaro
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  4. Rossana Rocco
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  5. Gabriella Silvestri
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  6. Silvia Rossi
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  7. Raffaele Manna
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Corresponding author

Correspondence to Elena Verrecchia.

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Verrecchia, E., Sicignano, L.L., Massaro, M.G. et al. Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy. Adv Ther 38, 1–10 (2021). https://doi.org/10.1007/s12325-020-01574-w

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  • DOI: https://doi.org/10.1007/s12325-020-01574-w

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