Qualitative interviews with patients with mucopolysaccharidosis type I (MPS I) and caregivers to evaluate the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ)

Abstract

Mucopolysaccharidosis I (MPS-I) is a rare autosomal recessive genetic disorder that can have physical, social, and emotional impacts. The MPS Health Assessment Questionnaire (MPS-HAQ) was developed to assess these impacts and includes 52 items across 10 domains of activities of daily living (i.e., eating/drinking, dressing, bathing, grooming, tooth brushing, toileting, mobility, walking, stairs, and caregiver assistance). It is intended for patient or caregiver completion. Cognitive debriefing interviews were conducted with patients and/or caregivers to evaluate the readability, comprehensibility, relevance, and comprehensiveness of the MPS-HAQ. Interviews were semi-structured. Participants were asked to “think aloud” about how they chose an answer for each MPS-HAQ item to identify any words or concepts they did not understand and to provide feedback on whether the items assess impacts experienced by individuals with MPS-I. All interviews were audio-recorded, transcribed verbatim, and transcripts were coded for qualitative analysis. Interviews were conducted in the US via telephone representing the experiences of 19 individuals with MPS-I. Among these individuals with MPS-I, ages ranged from 2-37 years (median age of 15 years) and over half were female (n=13, 68.4%). Patients had a diagnosis of Hurler Syndrome (n=14, 73.7%) or Hurler-Scheie (n=5, 26.3%). Preliminary analysis of the interview data indicates that patients and caregivers are able to interpret the content of the MPS-HAQ as intended and that the MPS-HAQ evaluates concepts relevant to the MPS-I experience. Formal qualitative data analyses were conducted on the coded transcripts to evaluate readability, comprehensibility, relevance, and comprehensiveness of the MPS-HAQ with the addition of relevant participant quotations. The results from the qualitative interviews support the content validity of the MPS-HAQ for assessing the impacts experienced by patients with MPS-I. Sponsor: Sanofi Genzyme