Kristi Jackson

Leukocyte adhesion deficiency, type I (LAD-I) is a rare inborn error of immunity characterized by recurrent, severe infections/inflammation and poor wound healing. Little is known about the patient/family experience of severe LAD-I. We conducted a multiple-case study exploring the burdens of illness, caregiving, and treatment in severe LAD-I. Nine caregivers (parents) representing five families with ≥1 child with severe LAD-I participated in individual, in-depth interviews. Memoing and inductive/deductive coding were used to analyze and compare each family’s experience. The caregivers described frequent and severe infections, physical and social restrictions, a complex journey to diagnosis, rearranging life around severe LAD-I, financial strain, isolation, and uncertainty. Treatment burden varied by treatment type. This multiple-case study highlights how severe LAD-I affects patients and families. As the first study to address the humanistic burden of LAD-I in patients and caregivers, it is an important contribution to the literature on LAD-I and qualitative methods for investigating the burden of rare disease on families.

Purpose Mapping or matching the items in a clinical outcome assessment (COA) to concepts that define a condition is a common method for evaluating a COA’s concept coverage. The purpose of this research was to address the lack of formal guidance for conducting this task by developing a framework for best practices in COA concept mapping and applying it to a case study. Methods To develop the framework, we examined the literature and created a draft set of best practices which was then reviewed by experienced researchers through focus groups before being finalized. To conduct the case study, we extracted data from a systematic review of knee osteoarthritis (KO) symptoms and impacts and used the framework to map relevant concepts to items in the SF-36v2^® Health Survey (SF-36v2). Results The framework guides researchers in defining the purpose of and data sources for the mapping, establishing guiding principles and decision-making thresholds, and conducting the mapping exercise. The results of the case study demonstrate the usefulness of the framework in identifying 27/36 items (75%) in the SF-36v2 that addressed concepts that define KO. Conclusion This case study illustrates how the framework for best practices in COA concept mapping may be used, highlighting how establishing clear concept definitions and guiding principles and following a structured process throughout can help produce consistent, reliable, and reproducible results. The results from this rigorous approach can provide valuable evidence to support decisions about the appropriateness of a COA for the intended patient population.

Purpose: This qualitative study (GSK study: 213635) was designed to better understand sleep disturbance as experienced by individuals with rheumatoid arthritis (RA) or axial spondyloarthritis (axSpA), and the relationship between sleep disturbance and pain and other aspects of the disease and disease activity. Methods: Sixty-minute, one-on-one, concept elicitation interviews were conducted with 30 participants (15 with RA and 15 with axSpA) from the US. Interviews were audio-recorded and transcribed verbatim. Interview transcripts were coded and analyzed to explore themes related to pain and sleep disturbance, and relationships among those themes. Results: Pain was a prominent driver of sleep disturbance; 12 participants with RA (80%) and 14 with axSpA (93%) reported that pain impacted their ability to fall asleep, while all 15 with RA (100%) and 14 with axSpA (93%) reported that pain impacted their ability to stay asleep. Two-thirds of participants with RA (67%) or axSpA (60%) described a bi-directional relationship, whereby pain worsened sleep disturbance and sleep disturbance further aggravated pain. Factors other than pain, such as fatigue and emotional health, were also reported as important contributors to sleep disturbance (RA: n = 12/15, 80%; axSpA: n = 14/15, 93%). Participants with RA or axSpA described complex interconnections between fatigue, emotional health, pain, and sleep, often labeling these relationships as “vicious cycles”. Notably, half of all participants reported sleep disturbance occurring without pain or other understood causes. Conclusion: These perspectives collected from people with RA or axSpA suggest that reducing sleep disruption directly may offer clinically relevant benefits.