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