Qualitative Insights on Meaningful Change in Symptoms and Impacts for Patients With Alpha-1 Antitrypsin Deficiency

Author(s)

Katelyn N. Cutts, MS1, Seda Turkmenoglu, BS2, James Fettiplace, MD3, Jackie Parkin, MB,BS, PhD, FRCP3, Tsion Fikre, MPH1, Yipin Han, MHS1, James Michael Wells, MD4, Charlie Strange, MD5, Monica Goldklang, MD6, Paul W. Jones, MD, PhD7, Heather Gelhorn, PhD1.
1Thermo Fisher Scientific, Wilmington, NC, USA, 2Mereo Biopharma Group PLC, New York, NY, USA, 3Mereo Biopharma Group PLC, London, United Kingdom, 4University of Alabama at Birmingham, Birmingham, AL, USA, 5Medical University of South Carolina, Charleston, SC, USA, 6Columbia University, New York, NY, USA, 7City St. George’s, University of London, London, United Kingdom.
OBJECTIVES: Alpha-1 antitrypsin deficiency-associated lung disease (AATD-LD) is a rare genetic cause of chronic airflow limitation due to a severe deficiency of the alpha-1 antitrypsin (AAT) protein. The objectives of this study were to identify important symptoms and impacts patients with AATD-LD experience and gain insights into what patients consider a meaningful change.
METHODS: Hybrid concept elicitation and cognitive one-on-one telephone interviews were conducted with participants from three US clinical sites. As part of a larger study, participants were asked about the symptoms and impacts associated with AATD-LD and what they would consider to be meaningful changes in their overall disease and in terms of shortness of breath related to activities. Participants were also asked about patient global impression of severity and change (PGIS and PGIC) items.
RESULTS: Fifteen participants were recruited (53% female), mean (SD) age of 62.2 (8.8) years. The mean (SD) duration from first AATD-LD diagnosis was 14.9 (11.4) years. All participants reported shortness of breath as a symptom, and 13 (87%) indicated this is the symptom they would most like to see improved. Participants reported a broad range of impacts, with physical activities (n=11, 73%), walking (n=10, 67%), exercise (n=8, 53%), housework (n=8, 53%), daily activities (n=8, 53%), work (n=7, 47%), social (n=6, 40%) and emotional (n=4, 27%) impacts commonly mentioned. Physical activities (n=7, 47%) were most commonly identified as those they would most like to see improved. Most participants (n=14, 93%) reported that if their condition remained stable as defined by PGIS/PGIC, they could consider the treatment to be meaningful.
CONCLUSIONS: The majority of the participants with AATD-LD indicated that achieving stability (i.e., no longer experiencing decline) would be meaningful to them. These results may be useful for subsequent work to establish thresholds for meaningful change and/or selection of appropriate endpoints for drug development.

Conference/Value in Health Info

2025-05, ISPOR 2025, Montréal, Quebec, CA

Value in Health, Volume 28, Issue S1

Code

PCR178

Topic

Patient-Centered Research

Topic Subcategory

Patient-reported Outcomes & Quality of Life Outcomes

Disease

SDC: Rare & Orphan Diseases, SDC: Respiratory-Related Disorders (Allergy, Asthma, Smoking, Other Respiratory)

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