The final TACT themed #apaperaday is about microdystrophin gene therapy again but now with a focus on the immune response that is induced after AAV natural infection or gene therapy infusion. A paper from Saha et al published in Human Gene Therapy doi 10.1177/10430342251385586

It is clear that Duchenne muscular dystrophy is more than a muscle disease, and other tissues and cells are affected as well, like the brain, but also the neuromuscular junctions (NMJ). At least in mice, exon skipping can improve deficits in the NMJ. www.sciencedirect.com/science/arti...

#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y

#apaperaday again from the TACT meeting in Atlanta, with the WAKZ Glass House on Tour and again about microdystrophin with a pick from Foltz et al from Molecular Therapy methods and clinical development with a head to head comparison of two micro-dystrophins doi 10.1016/j.omtm.2025.101519

#apaperaday with delay due to travels to the TREAT-NMD advisory committee for therapeutics meeting in Atlanta. Also taking the WAKZ (children hospital at LUMC) glass house on tour rather than Klaus to commemorate the glazen huis topic of spieren voor spieren in December (Dutch people understand).

There are many good reasons to attend: the speakers, the topic but also the surrounding and the @keystonesymposia.bsky.social concept. Highly recommended

#apaperaday Today's pick is a commentary by Kerkhof and Buijsen from Molecular Therapy Nucleic Acids, about a paper by Yameogo et al, who describe a new variant for Friedreich's ataxia and show that antisense oligonucleotides correct normal transcripts. DOI: 10.1016/j.omtn.2025.102723

#apaperaday Today Yuzu picked a paper blindly from the pile. Turned out to be from @dmmjournal.bsky.social by Braunreiter et al on the characterization of a humanized dystrophin exon 52 deletion model to facilitate developing of mutation specific therapies. Doi 10.1242/dmm.052182

Our paper on the goals and work of the N=1 collaborative for making individualized antisense oligonucleotide therapies (and others) a reality was published in @narresearch.bsky.social 6 months ago. If you missed it: academic.oup.com/nar/article/...

Due to the TREAT-NMD advisory committee of therapeutics meeting that takes place this weekend in Atlanta, we're shifting the #apaperaday week from Tuesday-Sunday. So not paper for your this Monday and next Monday but extras on Saturday and Sunday. Leaving you with a sunset picture

#apaperaday Today's pick is again from the @erdera.bsky.social general assembly meeting with the Kobe Animal Kingdom Shoebill decorating a pick from @biorxivpreprint.bsky.social by Ling et al on the NMA oligonucleotide modification that was also mentioned at #OTS2025 doi 10.1101/2025.10.06.680653

#apaperaday Today from the @erdera.bsky.social general assembly meeting in Amsterdam. The pick is from Feng at al from @mdpiopenaccess.bsky.social international journal of molecular sciences on using MuSK agonist antibodies in the delta7 model of SMA DOI: 10.3390/ijms22158015

#apaperaday from the office for a change. Today's pick is from @journalnd.bsky.social and is an invited review (by me :)) on real world evidence of nusinersen in patients with spinal muscular atrophy (SMA) by Matesanz and Finkel oi: 10.1177/22143602251385045

#apaperaday Today's pick is a paper by Ghawaa et al in Pharmaceutical medicine on the use, reimbursement and cost of FDA approved exon skipping treatments by Duchenne patients between 2017 and 2022. doi: 10.1007/s40290-025-00587-6.

#apaperaday From home because later we need to go to Utrecht University for teaching. Today's pick is from Journal of Pediatric Endocrinology and Metabolism by McCauley et al on a retrospective analysis of Duchenne boys using testosterone to induce puberty. DOI: 10.1515/jpem-2025-0329

#apaperaday We are back home and Yuzu selected a paper from Greiner et al in Journal of the American Heart Association on the epicardial adipose tissue in Duchenne patients with cardiomyopathy. The epicardium is the tissue that surrounds the heart doi: 10.1161/JAHA.125.042300

#apaperaday Today’s final #ots2025 themed pick is from computational and structural biotechnology journal by Kimi et al on the software tool ASOG: antisense oligonucleotide generator doi: 10.1016/j.csbj.2025.09.022 Travelling back today after a great meeting and a great party (we missed Mano though)

#apaperaday the #ots2025 themed series continues with a pick from Chaya et al in ASC omega on a micro-nanoparticle for muscle delivery of ASOs doi 10.1021/acsomega.5c02207. Picked because of the 2 chemistry and delivery sessions that we had in the past 2 days at #OTS2025

#apaperaday #OTS2025 themed still with a pick from Chen et al in chemistry community on evaluation of mixing PO and PS in a backbone of a splice switching antisense oligonucleotide (ASO). Note that the senior author (Rakesh Veedu) presented it at #otsindia & is here at OTS! 10.1021/acsomega.3c07618.

Correction: POSTER 214 not poster 210. Apologies. It is presented tomorrow by @surojit94.bsky.social and @arunshas.bsky.social #OTS2025

The #ots2025 themed #apaperaday is from India by Ghosh @surojit94.bsky.social @arunshas.bsky.social et al in Methods on the use of click chemistry to conjugate a short peptide to a 2OMePS ASO for dystrophin exon skipping doi 10.1016/j.ymeth.2025.09.005 See also poster 210, presented tomorrow.

#Apaperaday from Budapest ASO themed for the #OTS2026 meeting. Yesterday I was gifted N1C logo origami paper. Today's pick is from Human Molecular Genetics on RNAseq to asses off target effects of ASOs by Kuijper and Van Roon-Mom and Buijsen et al. See also poster 237 at OTS! Doi 10.1093/hmg/ddaf153

#apaperaday last non antisense oligonucleotide (ASO) themed one before we go to attend the N1C and #OTS2025 meetings this weekend. Today's pick is from Steroids by de Vera et al, on a clinical trial studying the mineral corticoid receptor effects of vamorolone. Doi 10.1016/j.steroids.2025.109689.

#apaperaday with delay as I got my Covid and flu shot this morning and then meetings ensued. Today's pick is from @journalnd.bsky.social by Muntoni et al on the characterization of ambulatory health states in Duchenne patients and how they predict loss of ambulation. DOI: 10.1177/22143602251364694

#apaperaday Today's pick is from @worldmusclesociety.org journal Neuromuscular Disorders by LUMC colleagues Ginjaar et al on incidental findings of deletions and duplications in the DMD gene. Yuzu took a nap so no confetti making.DOI: 10.1016/j.nmd.2025.106219

#apaperaday Today's pick is from @natcomms.nature.com by Baeza-Centurion et al on a systematic analysis of mutations in a short exon that is alternatively spliced to assess the impact on exon inclusion. DOI 10.1038/s41467-025-62957-7.

For my Dutch followers, together with clinicians from LUMC and Radboudumc we wrote an overview on therapy development for Duchenne for the Dutch Journal of Rehabilitation Medicine in Dutch. www.revalidatie.nl/ntr/medicati... Nederlands Tijdschrift voor Revalidatiegeneeskunde – NTR

#apaperaday Today is not going as anticipated, as 1.5 hours after leaving home, I was back due to train issues. Today's pick is from @journalnd.bsky.social by Coratti et al, on the 3 year natural history of the performance upper limb in Duchenne patients. doi: 10.1177/22143602251355318.

From @worldmusclesociety.org #WMS2025 meeting where Lilly Winter presented on plectin Wednesday: i think it is more likely that this #apaperaday case has a pathogenic variant in plectin because that leads to muscle weakness and skin disease. See also e.g. pubmed.ncbi.nlm.nih.gov/15810881/

#apaperaday the last #WMS2025 @worldmusclesociety.org themed paper, a review by Relaix et al on rat models for Duchenne muscular dystrophy, published in Skeletal Muscle and specifically flagged by the journal for #WDAD2025 @worldduchenne.bsky.social. DOI: 10.1186/s13395-025-00395-1

#apaperaday Today the @worldmusclesociety.org #WMS2025 themed series continues with a pick from Shieh et al in Therapeutic Advances in Rare Diseases. It is a plain language summary of a previous publication on the gene therapy trial in myotubular myopathy patients. DOI 10.1177/26330040251362885

#apaperaday @worldmusclesociety.org #WMS2025 themed still and now coming to you from Vienna. Today’s pick is a case report by Laine et al published in Muscle & Nerve about a patient who developed an anaphylactic shock during Elevidys treatment. DOI: 10.1002/mus.70029

#apaperaday is again #WMS2025 @worldmusclesociety.org conference themed with a pick from the society journal Neuromuscular Disorders, by Wolff et al on consensus recommendations and considerations for gene therapy treatment in Duchenne patients. Doi 10.1016/j.nmd.2025.106208.

#apaperaday You can look forward to a muscle disease themed week to commemorate the @worldmusclesociety.org conference in Vienna. we start with a paper from Vlodavets et al in Journal of Comparative Effectiveness Research on the ataluren trial in Duchenne DOI: 10.57264/cer-2024-0238

#apaperaday last @scilifelab.se meeting oligonucleotide themed paper. Today a review by Ruan et al in SLAS discovery on off target effects of oligonucleotide. Read it on the way back from Stockholm and then Yuzu turned it into confetti Doi 10.1016/j.slasd.2025.100254

Paper out in the @worldmusclesociety.org journal NMD about applying rules of the N=1 IRDIRC taskforce to Duchenne. There will be a debate about this at the WMS conference next Wednesday as well (where I will be less nuanced for the sake of debating). www.sciencedirect.com/science/arti...

#apaperaday the oligonucleotide theme continues to commemorate yesterday's SciLife meeting @scilifelab.se with a pick from Zhang et al in journal of clinical investigation insight on assessing the molecular pathomechanism of a MAPK8IP3 missense variant doi 10.1172/jci.insight.187199

#apaperaday the rest of the week there will be an oligonucleotide focused special to commemorate the science summit “Disruptive Technologies to drug the undruggable” taking place today in Stockholm where I will present on (what else?) oligonucleotides.

#apaperaday Today's pick is from the Journal of Endocrinological Investigation by Rohlenova et al on endocrinological complications in Duchenne patients and how they are perceived by the patients DOI 10.1007/s40618-025-02699-x

#apaperaday Yuzu is working on an egg so less interest in papers currently. Today's pick is about a training method a friend/colleague (Anri Human) from South-Africa made to teach physiotherapy to undergraduate students via gaming published in Medical Teacher. DOI: 10.1080/0142159X.2025.2556872

#apaperaday After yesterday's belated paper, now also today's pick from LUMC colleagues on a natural history study in Becker patients by Schrama et al that was published in Neurology doi DOI: 10.1212/WNL.0000000000214071

#apaperaday A belated special on antisense oligonucleotides (ASOs) due to the @erdera.bsky.social WP12 meeting to reach consensus on eligibility processes for N=1 ASO therapy development yesterday.

Due to an @erdera.bsky.social WP12 meeting today I forgot to post the #apaperaday I had lined up. Tomorrow you will get this AND the one for Friday

#apaperaday Today's pick is from Human Molecular Genetics by Banks et al on the role desmin and costamers play in the integrity of skeletal muscles that lack dystrophin in type 2 fibers of mice. Not my core expertise so I hope I can do it justice doi: 10.1093/hmg/ddaf127.

#apaperaday Today's pick was selected by Yuzu and is from @moltherapy.bsky.social Nucleic Acids by Jae Moon et al on a combination of antisense oligonucleotide (ASO) to restore dystrophin and reduce TGF-beta signaling in d2/mdx mice. DOI: 10.1016/j.omtn.2025.102665

#apaperaday Daily tweets are back! Today's pick is a chapter from the recently published Methods in Molecular Biology on RNA analysis by Hirt et al on skipping in-frame exons to produce proteins that lack a specific domain. DOI: 10.1007/978-1-0716-4726-4_12

#apaperaday Today's pick is from @journalnd.bsky.social by Chouery et al on a recurrent nonsense mutation in exon 71 of the dystrophin gene that was found in 5 unrelated Lebanese families who did not have muscle or heart symptoms. DOI: 10.1177/22143602251369639

Next GBM Lunch on Sept. 24, 2025 (12:30)! 🧬 Join us for an exciting lecture by Annemieke Aartsma-Rus @oligogirl.bsky.social (Dept. of Human Genetics, Leiden University) on "Development of exon skipping ASO therapy". Chair: Julia Weigand (Philips University Marburg) #GBMLunch

#apaperaday Today's pick is from World Journal of Methodology by Dragoi et al on the effects of ionized water in 3 boys with Duchenne. The title claims 'remarkable' effects - fortunately the paper itself is more nuanced. 10.5662/wjm.v15.i3.100840

#apaperaday We're back from holiday. Due to teaching there will be a few papers this week until we go back to the daily routine. Today's pick is from Nucleic Acid Therapeutics by Frei et al on single cell sequencing of primate brain regions treated with Malat1 ASOs. DOI: 10.1177/21593337251371594