World Duchenne Organization

Global organization to find a cure and viable treatment for those lives affected by dystrophinopathies: Duchenne and Becker Muscular Dystrophy. RT ≠ endorsement

[World Duchenne Organization @worldduchenne]

📷 The World Duchenne Awareness Day 2025 documentary “Family: the heart of care” is now available!
Discover three powerful stories of the Duchenne Community in Japan, Mauritius and Greece.
Directed: @nicolettamadia
Produced: Arim Communication
#WDAD2025
https://t.co/4iYjy1NXVI

[World Duchenne Organization @worldduchenne]

Family means so much. It is support, love & shared journeys.
This World Duchenne Awareness Day (Sept 7), a new documentary tells 3 powerful stories from Japan, Mauritius & Greece about strength, bonds & hope.
🎈 Watch the official #WDAD2025 trailer: https://t.co/jsfbZwphRq

[World Duchenne Organization @worldduchenne]

We urge EU member states to uphold the commitment to meaningful patient involvement during the upcoming negotiations. It is critical that patient representation is embedded in the legislation https://t.co/XOnzE8ZPP4

[World Duchenne Organization @worldduchenne]

⏰ Applications are almost closing for Duchenne Patient Academy 2024!

Join us online on December 6 & 7 to gain essential advocacy skills, connect with experts, and learn about key topics like drug development, patient advocacy, and standards of care.

→ https://t.co/ZjqCxgCNhS

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Today's pick is again from Acta Myology, an expert perspective on transition and management of Duchenne patients in Italy by Spagnoli et al. DOI: 10.36185/2532-1900-447

[World Duchenne Organization @worldduchenne]

🗓️ Just a few days left to apply for Duchenne Patient Academy 2024!

New patient advocates are encouraged to apply for this unique opportunity to learn advocacy skills & make a real impact.

More information here 👇
https://t.co/7AOUDiuwJl

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Today not a paper but instead a perspective 🧵on the announcement of @Sarepta to stop the development of vesleteplirsen, aka SRP-5051 due to safety concerns. These are my own personal opinions in an attempt to put things in perspective. https://t.co/dLWTJUgXIp

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Today again Duchenne themed for the @Action_Duchenne meeting that will start today. The pick is on gene therapy treatment readiness in Italian centers of expertise by Pane et al from Acta Myology DOI: 10.36185/2532-1900-487

[World Duchenne Organization @worldduchenne]

Sarepta has decided to stop developing SRP-5051, a treatment for Duchenne muscular dystrophy, because some study participants experienced low magnesium levels and kidney issues that raised safety concerns.
Read their community letter here:
https://t.co/MFNlrmEACz

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday is Duchenne themed today as I'll be traveling to @ActionDuchenne meeting tonight and will present there tomorrow. The pick is from Acta Myologica by @LucaBello2 et al, a perspective on the @TheLancetNeuro paper of the givinostat trial. DOI: 10.36185/2532-1900-637

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Today we have a Kiki Totoro cross-over for a multidisciplinary workshop organized by @TREAT_NMD on early diagnosis of Duchenne (to segway from the @TREAT_NMD TACT meeting into @ActionDuchenne later this week). Paper by Lorentzos et al DOI: 10.1016/j.nmd.2024.104467

[EURORDIS-Rare Diseases Europe @eurordis]

True patient partnership means involvement from the start and consultation every step of the way. 🚶

We spoke to Dimitrios Athanasiou about how @ERDERA_org is keeping everyone comprised of their work on data! @worldduchenne

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Today's pick if from Angewandte Chemie International Edition by Pan et al on self assembled antibody-oligonucleotide conjugates for muscle delivery of antisense oligonucleotides (ASOs) for dystrophin exon skipping. DOI: 10.1002/anie.202415272

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Back from LUMC with as a first back home pick the report on the EMBARK clinical trial on Elevidys (formally delandistrogene moxearvovec) in Duchenne by Mendell et al in @NatureMedicine DOI: 10.1038/s41591-024-03304-z

[World Duchenne Organization @worldduchenne]

Following a re-examination of available data, EMA’s human medicines committee (CHMP) has confirmed its previous recommendation to not renew the conditional marketing authorisation for Translarna (ataluren).

Read the full article by EMA here: https://t.co/0xls5JjeuA

[World Duchenne Organization @worldduchenne]

🚀 Calling all patient advocates! The EURORDIS Open Academy Schools are now open for applications.

Join @eurordis in Barcelona from June 2-5, 2025, for expert-led training on rare disease research and therapeutic development.

Apply by October 26: https://t.co/Q98lSe8zIX

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday from Toronto where I will give lectures on Wednesday & Thursday. Klaus & I enjoyed the train trip from Montreal. First pick we read en route is a review by Wei et al on histone modifications in Duchenne from Journal of Medical Genetics DOI: 10.1136/jmg-2024-110045

[AnnemiekeAartsma-Rus @oligogirl]

#apaperaday Today’s pick is by Wang et al , a @biorxivpreprint that was presented by the senior author, @YosephBarash in Porto at the RNA Horizon meeting and while he was presenting it, @roon_mom emailed the preprint 'look this is interesting' 😆DOI: 10.1101/2024.09.01.610696

[AnnemiekeAartsma-Rus @oligogirl]

#Apaperaday with Yuzu before going on a 2 week trip to visit @N1Collaborative @OTSociety and @SickKidsNews meetings. Today's pick is a premonition to my @OTSociety #OTS2024 keynote lecture: a reflection on exon skipping therapy development by @AGoyenvalle DOI: 10.1039/d4md00394b