Skip To Main Content

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

  • 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