Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey
Abstract Background Alpha-mannosidosis is a rare recessive lysosomal storage disorder with progressive multi-systemic impacts. In the absence of standardized monitoring protocols, there is insufficient understanding of disease progression over time. This study explored the evolution of the burden of...
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BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03694-4 |
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| author | Karolina M. Stepien Sophie Thomas Julia B. Hennermann Christina Lampe Nicole M. Muschol Maria Juliana Ballesta-Martínez Jordi Cruz Mónica López-Rodríguez Anneliese Barth Martin Magner Allan M. Lund Vasilica Plaiasu Andrea Ballabeni Francesca Donà Heather M. Morgan Nathalie Guffon |
| author_facet | Karolina M. Stepien Sophie Thomas Julia B. Hennermann Christina Lampe Nicole M. Muschol Maria Juliana Ballesta-Martínez Jordi Cruz Mónica López-Rodríguez Anneliese Barth Martin Magner Allan M. Lund Vasilica Plaiasu Andrea Ballabeni Francesca Donà Heather M. Morgan Nathalie Guffon |
| author_sort | Karolina M. Stepien |
| collection | DOAJ |
| description | Abstract Background Alpha-mannosidosis is a rare recessive lysosomal storage disorder with progressive multi-systemic impacts. In the absence of standardized monitoring protocols, there is insufficient understanding of disease progression over time. This study explored the evolution of the burden of illness and quality of life (QoL) experienced by patients with alpha-mannosidosis via an international patient and caregiver-based survey. The online survey was distributed to adult patients/caregivers of patients ≥ 10 years old. It included visual analogue scales (VAS; timepoints 5 years ago and now), multiple choice, and open text questions. We report a subset of functional and QoL data: walking ability, pain/discomfort, ability to self-care, and mental health. Results Analyses include 51 responses from 18 countries: 26 patients were on velmanase alfa enzyme replacement therapy (ERT), seven had been treated with hematopoietic stem cell transplantation (HSCT) and 18 were untreated patients (UP). Over 5 years, VAS scores showed the least decline in walking ability for HSCT patients (+ 0.1 ± 1.9) compared to patients receiving ERT (+ 0.7 ± 1.2) and UP (+ 1.8 ± 2.0). A trend towards improvement in pain was only observed for those on ERT (-0.2 ± 2.0), both for pediatric and adult patients. Ability to self-care improved for patients treated with HSCT (-1.0 ± 1.8) and slightly improved with ERT (-0.3 ± 1.5) but worsened for UP (+ 0.6 ± 0.9). Similarly, a trend towards improvement in mental health scores was observed for patients on ERT (-0.4 ± 2.2). Conclusions Alpha-mannosidosis is associated with a substantial and progressive burden in UP, including deterioration in walking ability, pain, self-care and mental health. The survey results suggest that treatment with ERT or HSCT may slow this natural progression of alpha-mannosidosis, with these patients following a different disease trajectory to those solely receiving supportive care. This study could inform the natural pathway of alpha-mannosidosis to recognize patients’ needs, courses of care, and the design of interventional studies. |
| format | Article |
| id | doaj-art-7e42811cfbb94e58b113fa4f8e6f2825 |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-7e42811cfbb94e58b113fa4f8e6f28252025-08-20T02:15:11ZengBMCOrphanet Journal of Rare Diseases1750-11722025-05-0120111510.1186/s13023-025-03694-4Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M. Stepien0Sophie Thomas1Julia B. Hennermann2Christina Lampe3Nicole M. Muschol4Maria Juliana Ballesta-Martínez5Jordi Cruz6Mónica López-Rodríguez7Anneliese Barth8Martin Magner9Allan M. Lund10Vasilica Plaiasu11Andrea Ballabeni12Francesca Donà13Heather M. Morgan14Nathalie Guffon15Adult Inherited Metabolic Disorders, Salford Care Organisation, Northern Care Alliance NHS Foundation TrustThe Society for Mucopolysaccharide and Related Diseases, MPS HouseVilla Metabolica, University Medical Center MainzCentre for Rare Diseases, University Hospital of GiessenUniversity Medical Center Hamburg-EppendorfHospital Universitario Virgen de la ArrixacaAsociación MPS-Lisosomales EspañaHospital Universitario Ramón y Cajal, IRYCISInstituto Fernandes Figueira /FiocruzDepartment of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles UniversityCentre for Inherited Metabolic Diseases, Copenhagen University HospitalRegional Center of Medical Genetics Bucharest, INSMC Alessandrescu-RusescuChiesi Farmaceutici S.p.AChiesi Farmaceutici S.p.AChiesi USA Inc.Reference Center for Inherited Metabolic Disorders, Femme Mère Enfant Hospital, Hospices Civils de LyonAbstract Background Alpha-mannosidosis is a rare recessive lysosomal storage disorder with progressive multi-systemic impacts. In the absence of standardized monitoring protocols, there is insufficient understanding of disease progression over time. This study explored the evolution of the burden of illness and quality of life (QoL) experienced by patients with alpha-mannosidosis via an international patient and caregiver-based survey. The online survey was distributed to adult patients/caregivers of patients ≥ 10 years old. It included visual analogue scales (VAS; timepoints 5 years ago and now), multiple choice, and open text questions. We report a subset of functional and QoL data: walking ability, pain/discomfort, ability to self-care, and mental health. Results Analyses include 51 responses from 18 countries: 26 patients were on velmanase alfa enzyme replacement therapy (ERT), seven had been treated with hematopoietic stem cell transplantation (HSCT) and 18 were untreated patients (UP). Over 5 years, VAS scores showed the least decline in walking ability for HSCT patients (+ 0.1 ± 1.9) compared to patients receiving ERT (+ 0.7 ± 1.2) and UP (+ 1.8 ± 2.0). A trend towards improvement in pain was only observed for those on ERT (-0.2 ± 2.0), both for pediatric and adult patients. Ability to self-care improved for patients treated with HSCT (-1.0 ± 1.8) and slightly improved with ERT (-0.3 ± 1.5) but worsened for UP (+ 0.6 ± 0.9). Similarly, a trend towards improvement in mental health scores was observed for patients on ERT (-0.4 ± 2.2). Conclusions Alpha-mannosidosis is associated with a substantial and progressive burden in UP, including deterioration in walking ability, pain, self-care and mental health. The survey results suggest that treatment with ERT or HSCT may slow this natural progression of alpha-mannosidosis, with these patients following a different disease trajectory to those solely receiving supportive care. This study could inform the natural pathway of alpha-mannosidosis to recognize patients’ needs, courses of care, and the design of interventional studies.https://doi.org/10.1186/s13023-025-03694-4Alpha-mannosidosisSurveyWalkingPainSelf-careMental health |
| spellingShingle | Karolina M. Stepien Sophie Thomas Julia B. Hennermann Christina Lampe Nicole M. Muschol Maria Juliana Ballesta-Martínez Jordi Cruz Mónica López-Rodríguez Anneliese Barth Martin Magner Allan M. Lund Vasilica Plaiasu Andrea Ballabeni Francesca Donà Heather M. Morgan Nathalie Guffon Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey Orphanet Journal of Rare Diseases Alpha-mannosidosis Survey Walking Pain Self-care Mental health |
| title | Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey |
| title_full | Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey |
| title_fullStr | Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey |
| title_full_unstemmed | Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey |
| title_short | Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey |
| title_sort | evolution of mobility pain discomfort self care and mental health in patients with alpha mannosidosis an international caregiver and patient survey |
| topic | Alpha-mannosidosis Survey Walking Pain Self-care Mental health |
| url | https://doi.org/10.1186/s13023-025-03694-4 |
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