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Peer-reviewedCC BY 4.0Orphanet Journal of Rare Diseases

Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey

  • Julia B. Hennermann1
  • Nathalie Guffon2
  • Sophie Thomas3
  • Karolina M. Stepien4
  • Christina Lampe5
  • Nicole M. Muschol6
  • Maria Juliana Ballesta-Martínez7
  • Jordi Cruz8
  • Mónica López-Rodríguez9
  • Anneliese Barth10
  • Allan M. Lund11
  • Vasilica Plaiasu12
4 more authors
  • Chiara Donati13
  • Heather M. Morgan14
  • Andrea Ballabeni13
  • Martin Magner15
15 affiliations
  1. 1Villa Metabolica, University Medical Center Mainz, Mainz, Germany
  2. 2Reference Center for Inherited Metabolic Disorders, Femme Mère Enfant Hospital, Hospices Civils de Lyon, Lyon, France
  3. 3The Society for Mucopolysaccharide and Related Diseases, MPS House, Amersham, UK
  4. 4Adult Inherited Metabolic Disorders, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford, UK
  5. 5Centre for Rare Diseases, University Hospital of Giessen, Giessen, Germany
  6. 6International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg- Eppendorf, Hamburg, Germany
  7. 7Sección de Genética Médica, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
  8. 8Asociación MPS-Lisosomales España, Barcelona, Spain
  9. 9Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain
  10. 10Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira - IFF/Fiocruz, Rio de Janeiro, Brazil
  11. 11Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen, Denmark
  12. 12Regional Center of Medical Genetics Bucharest, INSMC Alessandrescu-Rusescu, Bucharest, Romania
  13. 13Chiesi Farmaceutici S.p.A, Parma, Italy
  14. 14Chiesi USA Inc., Boston, USA
  15. 15Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic
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Abstract

Background: This study assessed quality of life (QoL) changes over time amongst caregivers of patients with alpha-mannosidosis, a rare autosomal recessive lysosomal storage disorder with progressive multi-systemic effects. An international online survey was distributed to caregivers of patients aged ≥ 10 years, including visual analogue scales (VAS; timepoints 5 years prior and current) and multiple choice and open text questions. Survey questions related to five QoL domains (physical health, mental health, family and social life, relationships with partners/family/friends and ability to work/attend education).

Results: Forty-three caregiver responses from 16 countries were analysed. Caregivers looked after 43 patients: 16 untreated patients (UP), six who had undergone allogenic haematopoietic stem cell transplantation (HSCT) and 21 receiving enzyme replacement therapy (ERT). From 5 years prior to the time of survey participation, physical health slightly improved for caregivers of ERT and HSCT patients (mean ± standard deviation changes in VAS − 0.1 ± 2.8 and − 0.2 ± 1.2, respectively) but slightly declined among UP caregivers (+ 0.7 ± 0.9). Mental health improved for caregivers of HSCT patients (-1.0 ± 4.7) but stabilised and worsened for ERT and UP caregivers, respectively (ERT: 0.0 ± 2.3; UP: +1.4 ± 1.9). Family and social life scores improved among caregivers of HSCT patients (-1.0 ± 3.5) but slightly declined and worsened for ERT (+ 0.1 ± 2.3) and UP (+ 1.1 ± 1.4) caregivers, respectively. Relationship scores slightly improved for caregivers of ERT and HSCT patients (both − 0.2) but worsened among UP caregivers (+ 1.3 ± 1.7). There were slight improvements in ability to work or attend education for caregivers of ERT and HSCT patients.

Conclusions: Although a causal relationship between disease-modifying treatment and caregiver QoL could not be determined, mostly due to small subgroup sizes and age differences between HSCT patients, ERT patients and UP, caregivers of patients receiving ERT or HSCT generally experienced stable or improved/slightly improved QoL outcomes over the 5-year study period. In contrast, caregivers of UP consistently reported deterioration across physical, mental, social and relational QoL domains. These patterns suggest that access to disease-modifying treatment could help mitigate declines in caregiver QoL, highlighting the need to routinely assess caregiver-reported outcomes and support caregiver needs alongside patient management in alpha-mannosidosis.

Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04496-y.

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Cite

BibTeXRIS
BibTeX
@article{hennermann2026quality,
  title = {{Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey}},
  author = {Julia B. Hennermann and Nathalie Guffon and Sophie Thomas and Karolina M. Stepien and Christina Lampe and Nicole M. Muschol and Maria Juliana Ballesta-Martínez and Jordi Cruz and Mónica López-Rodríguez and Anneliese Barth and Allan M. Lund and Vasilica Plaiasu and Chiara Donati and Heather M. Morgan and Andrea Ballabeni and Martin Magner},
  journal = {Orphanet Journal of Rare Diseases},
  year = {2026},
  month = jul,
  doi = {10.1186/s13023-026-04496-y},
  url = {https://doi.org/10.1186/s13023-026-04496-y},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey
AU  - Julia B. Hennermann
AU  - Nathalie Guffon
AU  - Sophie Thomas
AU  - Karolina M. Stepien
AU  - Christina Lampe
AU  - Nicole M. Muschol
AU  - Maria Juliana Ballesta-Martínez
AU  - Jordi Cruz
AU  - Mónica López-Rodríguez
AU  - Anneliese Barth
AU  - Allan M. Lund
AU  - Vasilica Plaiasu
AU  - Chiara Donati
AU  - Heather M. Morgan
AU  - Andrea Ballabeni
AU  - Martin Magner
PY  - 2026
DA  - 2026/07/22
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-026-04496-y
UR  - https://doi.org/10.1186/s13023-026-04496-y
AB  - Background: This study assessed quality of life (QoL) changes over time amongst caregivers of patients with alpha-mannosidosis, a rare autosomal recessive lysosomal storage disorder with progressive multi-systemic effects. An international online survey was distributed to caregivers of patients aged ≥ 10 years, including visual analogue scales (VAS; timepoints 5 years prior and current) and multiple choice and open text questions. Survey questions related to five QoL domains (physical health, mental health, family and social life, relationships with partners/family/friends and ability to work/attend education).  Results: Forty-three caregiver responses from 16 countries were analysed. Caregivers looked after 43 patients: 16 untreated patients (UP), six who had undergone allogenic haematopoietic stem cell transplantation (HSCT) and 21 receiving enzyme replacement therapy (ERT). From 5 years prior to the time of survey participation, physical health slightly improved for caregivers of ERT and HSCT patients (mean ± standard deviation changes in VAS − 0.1 ± 2.8 and − 0.2 ± 1.2, respectively) but slightly declined among UP caregivers (+ 0.7 ± 0.9). Mental health improved for caregivers of HSCT patients (-1.0 ± 4.7) but stabilised and worsened for ERT and UP caregivers, respectively (ERT: 0.0 ± 2.3; UP: +1.4 ± 1.9). Family and social life scores improved among caregivers of HSCT patients (-1.0 ± 3.5) but slightly declined and worsened for ERT (+ 0.1 ± 2.3) and UP (+ 1.1 ± 1.4) caregivers, respectively. Relationship scores slightly improved for caregivers of ERT and HSCT patients (both − 0.2) but worsened among UP caregivers (+ 1.3 ± 1.7). There were slight improvements in ability to work or attend education for caregivers of ERT and HSCT patients.  Conclusions: Although a causal relationship between disease-modifying treatment and caregiver QoL could not be determined, mostly due to small subgroup sizes and age differences between HSCT patients, ERT patients and UP, caregivers of patients receiving ERT or HSCT generally experienced stable or improved/slightly improved QoL outcomes over the 5-year study period. In contrast, caregivers of UP consistently reported deterioration across physical, mental, social and relational QoL domains. These patterns suggest that access to disease-modifying treatment could help mitigate declines in caregiver QoL, highlighting the need to routinely assess caregiver-reported outcomes and support caregiver needs alongside patient management in alpha-mannosidosis.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04496-y.
SN  - 1750-1172
ER  -