Mansfield C, Nalysnyk L, Joshi D, Coulter J, Pulikottil-Jacob R. Patient and parent preferences for symptom control in ASMD Type B and A/B using best-worst scaling methodology. Poster presented at the Virtual ISPOR 2021 Conference; May 2021. [abstract] Value Health. 2021 May; 24(5).

OBJECTIVES: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease A and B, is a rare, progressive, often fatal lysosomal storage disease that affects major organs. We conducted a preference survey to quantify the preferences of patients and parents of patients with ASMD type B or A/B for treatment priorities over ASMD symptoms.

METHODS: Object-case best-worst scaling methodology was used to explore patient and parent preferences for treatment priorities among a set of 15 possible ASMD symptoms (e.g., shortness of breath, abdominal enlargement, pain, fatigue) based on qualitative research. In 15 experimentally designed questions containing 5 items each, respondents were asked to rank the symptoms, irrespective of their experience with the symptom. Best-worst scaling data were analyzed using a simple scoring method.

RESULTS: The sample recruited through National Niemann-Pick Disease Foundation and Niemann-Pick United Kingdom included a total of 20 participants: 6 parents and 10 patients in the United States and 3 parents and 1 patient in the United Kingdom with a self-reported diagnosis of or a child with ASMD type B or A/B who were not participating in a clinical trial. Parents and patients both reported severe pain in bones and joints and constant abdominal pain to be two of the most bothersome symptoms. Easy bruising and noticeable or very noticeable abdominal enlargement were among the least bothersome symptoms for both groups. The most bothersome symptom for parents was the chance of bleeding in the spleen from a hit to the abdomen, while patients reported constant abdominal pain to be the most bothersome symptom.

CONCLUSIONS: Parents and patients had similar relative preferences for the symptoms that mattered most. Small sample size is a constraint. Understanding patient preferences is important, especially for rare diseases, and the insights can inform treatment decisions.

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