The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden

GOLLI, Tanja, Lenka JUŘÍKOVÁ, Thomas SEJERSEN and Craig DIXON. The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden. BMC Neurology. London: Biomed Central Ltd., 2024, vol. 24, No 1, p. 1-9. ISSN 1471-2377. Available from: https://dx.doi.org/10.1186/s12883-024-03570-x.

Basic information

• Original name: The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden
• Authors: GOLLI, Tanja, Lenka JUŘÍKOVÁ (203 Czech Republic, belonging to the institution), Thomas SEJERSEN and Craig DIXON.
• Edition: BMC Neurology, London, Biomed Central Ltd. 2024, 1471-2377.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30210 Clinical neurology
• Country of publisher: United Kingdom of Great Britain and Northern Ireland
• Confidentiality degree: is not subject to a state or trade secret
• WWW: URL
• Impact factor: Impact factor: 2.600 in 2022
• Organization unit: Faculty of Medicine
• Doi: http://dx.doi.org/10.1186/s12883-024-03570-x
• UT WoS: 001173847200001
• Keywords in English: Ataluren; Consensus; Disease progression; Duchenne muscular dystrophy; Dystrophin; Non-ambulatory
• Tags: 14110320, rivok
• Tags: International impact, Reviewed

Abstract

Background This paper details the results of an evaluation of the level of consensus amongst clinicians on the use of ataluren in both ambulatory and non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The consensus was derived using a modified Delphi methodology that involved an exploration phase and then an evaluation phase. Methods The exploration phase involved 90-minute virtual 1:1 interviews of 12 paediatric neurologists who cared for 30-120 DMD patients each and had patient contact every one or two weeks. The respondents managed one to ten nmDMD patients taking ataluren. The Discussion Guide for the interviews can be viewed as Appendix A. Following the exploration phase interviews, the interview transcripts were analysed by an independent party to identify common themes, views and opinions and developed 43 draft statements that the Steering Group (authors) reviewed, refined and endorsed a final list of 42 statements. Details of the recruitment of participants for the exploration and evaluation phases can be found under the Methods section. Results A consensus was agreed (> 66% of respondents agreeing) for 41 of the 42 statements using results from a consensus survey of healthcare professionals (n = 20) experienced in the treatment of nmDMD. Conclusions The statements with a high consensus suggest that treatment with ataluren should be initiated as soon as possible to delay disease progression and allow patients to remain ambulatory for as long as possible. Ataluren is indicated for the treatment of Duchenne muscular dystrophy that results from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older (see Summary of Product Characteristics for each country)