Journal Article

Lessons Learned From Clinical Studies in Centronuclear Myopathies: The Patient Perspective—A Qualitative Study

Hughes, Zak, Lennox, Anne, Stinissen, Lizan, Oortwijn, Wija, Fischer, Holger, Foley, A. Reghan, van Tienen, Jeno, Böhm, Johann, Ward, Erin, Wood, Marie, Jungbluth, Heinz, Bouma, Sietse, Voermans, Nicol C.

2024

Overview

•Since 2017, a number of clinical studies in centronuclear myopathies have taken place.•Focus groups were held with members of patient organizations in different countries.•The results provide insights in trial experiences and recommendations for future trials.•The acknowledgment of the patient perspective was strongly appreciated.•Efficient communication is expected to improve future clinical studies. Since 2014, several clinical studies focusing on centronuclear myopathies have been conducted, including a prospective natural history study, a gene transfer clinical trial and a clinical trial using an antisense oligonucleotide. Dedicated patient organizations have played an important role in this process. The experience of members of these organizations, either as a study participant, parent or as a patient organization member communicating with the sponsors are potentially very informative for future trial design. We investigated the burden of and the lessons learned from the first natural history studies and clinical trials from a patient perspective using a qualitative approach. We arranged 4 focus groups with a total of 37 participants from 3 large international patient organizations: ZNM-ZusammenStark!, the Myotubular Trust, and the MTM-CNM Family Connection. 4 themes, based on a systematic literature search were discussed: Expectations and preparation, Clinical study participation, Communication and Recommendations for future clinical trials. The focus group recordings were transcribed, anonymized, and uploaded to Atlas-ti version 8.1 software. The data were analyzed using a thematic content analysis. Overall, participants were realistic in their expectations, hoping for small improvements of function and quality of life. The realization that trial participation does not equate to a treatment was challenging. Participating in a clinical study had a huge impact on many aspects of daily life, both for patients and their immediate families. First-hand insights into the burden of the design and its possible effect on performance were provided, resulting in numerous compelling recommendations for future clinical studies. Furthermore, participants stressed the importance of clear communication, which was considered to be especially vital in cases of severe adverse events. Finally, while patients were understanding of the importance of adhering to the regulations of good clinical practice, they indicated that they would strongly appreciate a greater understanding and/or acknowledgment of the patient perspective and a reflection of this perspective in future clinical trial design. The acknowledgment and inclusion of patients’ perspectives and efficient and effective communication is expected to improve patient recruitment and retention in future clinical studies, as well as more accurate assessment of the patient performance related to suitable planning of the study visits.

• Publisher: Elsevier Inc,Elsevier Limited,Elsevier
• Subject: Advocacy / Antisense oligonucleotide / Antisense oligonucleotides / Biotechnology / Centronuclear myopathy / Clinical trials / Communication / Congenital diseases / Data analysis / Families & family life / Focus groups / Gene therapy / Gene transfer / Genetics / Internal Medicine / Life Sciences / Literature reviews / Medical research / Natural history / Neurons and Cognition / Participation / Patient satisfaction / Patients / Qualitative research / Quality of life / Santé publique et épidémiologie / X-linked myotubular myopathy