Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey
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.
Authors
- Karolina M. Stępień (ORCID: https://orcid.org/0000-0003-0148-6332)
- Christina Lampe (ORCID: https://orcid.org/0000-0003-4953-7119)
- M. López Rodríguez (ORCID: https://orcid.org/0000-0002-4594-1483)
- Martin Magner (ORCID: https://orcid.org/0000-0002-5883-9509)
- Allan M. Lund (ORCID: https://orcid.org/0000-0002-6091-7879)
- Nathalie Guffon (ORCID: https://orcid.org/0000-0002-3052-2366)
- Nicole Muschol (ORCID: https://orcid.org/0000-0003-4213-7294)
- Andrea Ballabeni (ORCID: https://orcid.org/0000-0002-6664-8825)
- Heather Morgan (ORCID: https://orcid.org/0000-0002-6118-8911)
- Julia B. Hennermann (ORCID: https://orcid.org/0000-0003-2639-1233)
- Vasilica Plăiaşu
- Francesca Donà
- Anneliese Lopes Barth
- Sophie Thomas
- José Ramiro Cruz
- Maria Juliana Ballesta-Martínez
Institutions
- Universität Hamburg (DE)
- Johannes Gutenberg University Mainz (DE)
- Charles University (CZ)
- Universitätsklinikum Gießen und Marburg (DE)
- Society for Endocrinology (GB)
- Salford Royal NHS Foundation Trust (GB)
- Copenhagen University Hospital (DK)
- Hôpital Femme Mère Enfant (FR)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- Hospices Civils de Lyon (FR)
- University Medical Center Hamburg-Eppendorf (DE)
- Instituto de Medicina Integral Professor Fernando Figueira (BR)
- Institutul National pentru Sanatatea Mamei si Copilului "Alessandrescu-Rusescu" (RO)
- Fundação Instituto de Pesca do Estado do Rio de Janeiro (BR)
- Instituto Ramón y Cajal de Investigación Sanitaria (ES)
- Asociación por los Derechos Civiles (AR)
- Hospital Universitario Virgen de la Arrixaca (ES)
- Hospital Universitario Ramón y Cajal (ES)
- Chiesi (Italy) (IT)
- Fundação Oswaldo Cruz (BR)
- Chiesi (France) (FR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-07
- DOI
- https://doi.org/10.1186/s13023-025-03694-4
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- Chiesi Farmaceutici