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.

Reference