Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study

BACKGROUND: Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefore, the present qualitative survey study was aimed at understanding knowledge of the disease, unmet needs, expectations, care, and overall medical management of adult/adolescent patients with MPS I, II and VI and their caregivers in France. RESULTS: A total of 25 patients (MPS I, n(p) = 11; MPS II, n(p) = 9; MPS VI, n(p) = 5) were included and about 36 in-depth interviews (caregivers alone, n(c) = 8; patients-caregiver pair, n(c+p) = 22; patients alone, n(p) = 6) were conducted. Except one (aged 17 years), all patients were adults (median age: 29 years [17–50]) and diagnosed at median age of 4 years [0.4–30], with mainly mothers as caregivers (n(c) = 16/19). Patients were classified into three groups: Group A, Patients not able to answer the survey question because of a severe cognitive impairment (n(p) = 8); Group B, Patients able to answer the survey question with low or no cognitive impairment and high motor disability (n(p) = 10); and Group C, Patients able to answer the survey question with low or no cognitive impairment and low motor disability (n(p) = 7). All groups were assessed for impact of disease on their daily lives based on a scale of 0–10. Caregivers in Group A were found to be most negatively affected by the disease, except for professional activity, which was most significantly impacted in Group B (4.7 vs. 5.4). The use of orthopaedic/medical equipments, was more prevalent in Groups A and B, versus Group C. Pain management was one of the global unmet need expressed by all groups. Group A caregivers expected better support from childcare facilities, disability clinics, and smooth transition from paediatric care to adult medicine. Similarly, Group B caregivers expected better specialised schools, whereas Group C caregivers expected better psychological support and greater flexibility in weekly infusion schedules for their patients. CONCLUSIONS: The survey concluded that more attention must be paid to the psychosocial status of patients and caregivers. The preference for reference centre for follow-up and treatment, hospitalizations and surgeries were evident. The most significant needs expressed by the patients and caregivers include better understanding of the disease, pain management, monitoring of complications, flexibility in enzyme replacement therapy, home infusions especially for attenuated patients, and improved transitional support from paediatric to adult medicine. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02593-2.