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 | Fatigue | ||
Abdominal pain | 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.
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