Impact of symptoms and risk of ASMD on patients and caregivers
Objective and Methodology
A survey was conducted to quantify:
Object case: BWS was used to explore 15 ASMD symptoms/risks.
Results
Baseline characteristics
Median age
- 5 years for patients in the US
- 3 years for children of parents from the US and the UK
Symptoms
- Abdominal enlargement
- Abdominal pain
- Fatigue
- Shortness of breath
Cognitive pretesting interviews
-
Parents and patients reported difficulty in identifying ASMD-associated symptoms.
- Parents were unaware of their child experiencing ASMD symptoms unless indicated by the child.
BWS results
Patients and parents
The largest differences in severity levels were observed for:
- Fatigue
- Joint pain
- Abdominal pain
Conclusion
- Patients and parents had similar preferences for ranking symptoms/risks.
- A wide range of symptoms displayed heterogeneity in samples.
*Severe fatigue: Fatigue so severe that the respondent might need help taking care of themselves and doing daily activities.
Abbreviations
ASMD: Acid sphingomyelinase deficiency; BWS: Best–worst scaling; NNPDF: National Niemann-Pick Disease Foundation; NPUK: Niemann-Pick United Kingdom; UK: United Kingdom; US: United States.
MAT-BH-2400114-V1-February 2024