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

J 2024

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

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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)

Citovat

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.

@article{2409478,
   author = {Golli, Tanja and Juříková, Lenka and Sejersen, Thomas and Dixon, Craig},
   article_location = {London},
   article_number = {1},
   doi = {http://dx.doi.org/10.1186/s12883-024-03570-x},
   keywords = {Ataluren; Consensus; Disease progression; Duchenne muscular dystrophy; Dystrophin; Non-ambulatory},
   language = {eng},
   issn = {1471-2377},
   journal = {BMC Neurology},
   title = {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},
   url = {https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03570-x},
   volume = {24},
   year = {2024}
}

TY  - JOUR
ID  - 2409478
AU  - Golli, Tanja - Juříková, Lenka - Sejersen, Thomas - Dixon, Craig
PY  - 2024
TI  - 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
JF  - BMC Neurology
VL  - 24
IS  - 1
SP  - 1-9
EP  - 1-9
PB  - Biomed Central Ltd.
SN  - 14712377
KW  - Ataluren
KW  - Consensus
KW  - Disease progression
KW  - Duchenne muscular dystrophy
KW  - Dystrophin
KW  - Non-ambulatory
UR  - https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-024-03570-x
N2  - 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)
ER  -

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. \textit{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.

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