Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.

Authors

Toko Shibuya, Takeyuki Akiyama, Tetsuji Fujiyama, Takanobu Otomo

Published in

Orphanet journal of rare diseases. Jul 03, 2026. Epub Jul 03, 2026.

Abstract

Japan Mucopolysaccharidoses (MPS) Patient and Family Group (J-MPS) was founded in 1986. It is the largest patient group for all types of MPS in Japan and now includes some of the patients with lysosomal storage diseases. Patients receive medical care but suffer from the daily progression of symptoms, holding a different assessment of treatment effectiveness than that considered by the medical professionals. This study summarises the annual reports of the society and the results of periodic surveys conducted by their own. The 20-year annual reports are based on J-MPS membership records since 2005. The three questionnaire surveys were planned, designed, and conducted by the patient association own. Survey I was conducted mainly about treatment and activities of daily living with MPS I, II, IVA, and VI for which ERTs are available. Survey II asked about current symptoms and medical care with MPS IIIA and IIIB. Survey III was focused on ocular complications and skeletal symptoms with all types of MPS.
MPS II is the most common type of membership, and the average age of members is gradually increasing over the year. In MPS, age at diagnosis has decreased compared to previous surveys. Even though enzyme replacement therapy and hematopoietic stem cell transplantation have improved symptoms, there is a slight discrepancy between improvement and patient satisfaction. The degree of need for assistance in life varies with the disease type. Decreased bone mineral density and retinal pigmentary degeneration may be underestimated.
This research is not physician-led evaluations, but patient-driven surveys, which is significant in that it focuses on the problems faced by patients and their families in the current era when enzyme replacement therapies are available. Coordination among patients, families, health care providers, and physicians is important to improve patients' quality of life.

PMID:
42400019
Bibliographic data and abstract were imported from PubMed on 04 Jul 2026.

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