#apaperaday another @eshg.bsky.social special read waiting for the plane back home: A pick by Trew et al from @moltherapy.bsky.social Nucleic Acids on the multiple ways by which antisense oligonucleotides (ASOs) can be used to treat genetic diseases. doi: 10.1016/j.omtn.2026.102953

#apaperaday @eshg.bsky.social special is the @biorxivpreprint.bsky.social from Wang et al on recursive splicing. This is the process where introns are removed in multiple steps rather than a single event. I have been intrigued by this process for some time. Doi 10.64898/2026.04.13.717821

#apaperaday Dutch Antisense Therapeutics Symposium special with a pick from @narjournal.bsky.social by Crooke et al; an update on N-lorem's efforts to develop antisense oligonucleotides for patients with nanorare mutations. doi: 10.1093/nar/gkag504.

#apaperaday Today's pick is from @journalnd.bsky.social by Weerkamp et al on a screening questionnaire to detect cognitive and academic problems in Duchenne patients. A product of the BIND (brain in dystrophinopathy) project. doi: 10.1177/22143602261433149

#apaperaday Today’s pick is Duchenne themed read en route to @afmtelethonpresse.bsky.social review panel meeting to discuss project applications. The pick is from pediatric neurology by Wade et al on fatal fat embolism in Duchenne patients without a fracture. DOI 10.1016/j.pediatrneurol.2026.05.007

Please note that the coming 2 weeks #apaperaday will appear every so often due to various travels to meetings and conferences

#apaperaday Today's pick is a paper from Man et al in @moltherapy.bsky.social nucleic acids on using antisense oligonucleotides (ASOs) to induce exon 27 skipping and restore WRN protein in cultured cells from Werner syndrome patients. doi: 10.1016/j.omtn.2026.102930

#apaperaday Today’s pick is from a topic that is completely outside of my area of expertise, but I know it is important so I picked it anyway. Apologies for any mistakes and omissions made in the 🧵. The pick is by Wang et al in @ajhgnews.bsky.social DOI 10.1016/j.ajhg.2025.10.012

#apaperaday Today's pick is from Value Health Regulatory issues by Meepolprapai et al on a cost and yield comparison between biopsies and next generation sequencing (NGS) to detect small mutations in Duchenne patients. Study from Thailand. doi: 10.1016/j.vhri.2026.101649

#apaperaday Today's pick was not of interest to Yuzu, who was rather sleepy anyway so stock footage to embellish the paper from Han et al in Cell Discovery on using antisense oligonucleotides (ASO) to switch PKM splicing as a potential anti-tumor treatment. doi: 10.1038/s41421-026-00882-9

#apaperaday Today's pick is from @moltherapy.bsky.social Advances on the targeted engineering of adeno associated viral vectors (AAV) to improve delivery to muscle while reducing uptake by the liver by Pan et al. DOI: 10.1016/j.omta.2026.201725

#apaperaday Today's pick is from @narjournal.bsky.social by Ling et al, a publication on NMA modified splice modulating antisense oligonucleotides (ASOs). Previously already featured as a @biorxivpreprint.bsky.social but now the peer reviewed paper is out. doi: 10.1093/nar/gkag484.

#apaperaday Today's pick is also inspired by yesterday's @worldduchenne.bsky.social care conference, with a selection from Wahlgren et al in @worldmusclesociety.org journal Neuromuscular Disorders on a study in Swedish adults living with Duchenne. Doi 10.1016/j.nmd.2026.106409

And the second N=1 Collaborative paper is out now, @erdera.bsky.social N=1 treatment work package effort, in collaboration with N1C experts: a guidance on communication and consent for individualized ASO development is published in @ajhgnews.bsky.social www.sciencedirect.com/science/arti...

#apaperaday Today is Duchenne themed for the @worldduchenne.bsky.social care conference I will present at today. A pick by Tian et al from the Journal of comparative effectiveness research on the post marketing study for eteplirsen, golodisren and casimersen in Duchenne. Doi 10.57264/cer-2025-0108

#apaperaday @erdera.bsky.social @eurordis.bsky.social open academy special part 2 with again a paper on N=1 therapies, this time from the journal bioethical inquiry by Maksimova et al proposing a dynamic withdraw mechanism for individualized therapies. Doi 10.1007/s11673-025-10529-1

One of the things I discussed in my talk is that funding and reimbursement for individualized therapy development is challenging. As it happens a perspective paper from the N=1 collaborative is just out about this pubmed.ncbi.nlm.nih.gov/42169148/ And more N=1 related papers are coming this week!

#apaperaday Today and tomorrow we will have N=1 themed papers to commemorate the @erdera.bsky.social @eurordis.bsky.social open academy where I presented today on N=1. The first pick is by Rodriguez Carstens et al in @mdpiopenaccess.bsky.social. Doi 10.3390/genes17030318

#apaperaday Today's pick is from Neurology by Mah et al on an open label trial with vamorolone in 2-4 year old Duchenne patients in Canada. Vamorolone is approved in the US for DMD for >2 years old but there is limited experience with treating patients <4 years. doi: 10.1212/WNL.0000000000218066

#apaperaday Today's pick is on an observational study in adults with spinal muscular atrophy (SMA) treated with nusinersen by Zaidman et al in @worldmusclesociety.org journal Neuromuscular Disorder. doi: 10.1016/j.nmd.2025.106256.

#apaperaday After yesterday's confetti-fest Yuzu preferred playing over confetti making today. The pick is from @ajhgnews.bsky.social by Feierman et al from the Musunuru / Ahrens-Nicklas team on the implications of the FDA plausible mechanism framework. doi: 10.1016/j.ajhg.2026.03.018

#apaperaday Today's pick is from @moltherapy.bsky.social advance on INS1201, an AAV9 micro-dystrophin construct that is delivered into the spinal fluid rather than the blood for the treatment of Duchenne. Paper by Thomsen et al describes preclinical work. doi: 10.1016/j.omta.2026.201707

This paper from Jonker et al in Orphanet Journal of Rare Diseases on the requirements for orphan drug development is not a #apaperaday but it is being customized by Yuzu for coauthor Virginie Hivert at her request. Handover next week at the @eurordis.bsky.social open academy in Barcelona

#apaperaday Today's pick is from @mdpiopenaccess.bsky.social Animals by Cridge et al. A case report of a cat with dystrophinopathy (and the obvious need for an origami cat companion). The authors found a pathogenic missense variant in the cat dystrophin gene. Hmmm doi: 10.3390/ani16081278.

#apaperaday No 🧵 today or tomorrow because it is a bank holiday dur to Ascension day. Enjoying a morning coffee in my OTS mug. See you all on Monday

#apaperaday Today’s pick is a @biorxivpreprint.bsky.social by Beer Wells on antisense oligonucleotides (ASOs) to skip exons in the 5’ UTR of genes published a while ago. It had sunk to the bottom of the pile. I checked: no updates since I downloaded it end of 2025. Doi 10.64898/2025.12.07.692584.

#apaperaday Today's pick is from Chen et al in Journal of Cachexia, Sarcopenia and Muscle on a compound to reduce TGF-beta signaling in a Duchenne mouse model (not the usual mdx mouse and some strange things are reported...). doi: 10.1002/jcsm.70081

#apaperaday Today's pick is by Murphy et al in @worldmusclesociety.org journal Neuromuscular disorder, an important case report on a Duchenne patient with adrenal crisis and electrolyte disturbance (low sodium in blood) after switching from deflazacort to vamorolone. doi: 10.1016/j.nmd.2026.106411

#apaperaday Today's pick is from the Journal of Cellular and Molecular Medicine by Senthilkumer et al on optimizing AAV microdystrophin constructs for the treatment of Duchenne. Preclinical studies only so far and early stage work. doi: 10.1111/jcmm.71078

#apaperaday is late because it is one of these days...Today's pick is by Crooke et al in @natbiotech.nature.com on commercial solutions for developing treatments for very rare genetic diseases. DOI: 10.1038/s41587-026-03056-w

#apaperaday Today's pick is by Owusu et al in @moltherapy.bsky.social nucleic acids, a very comprehensive preclinical study in the Duchenne mdx mouse model to test the Regenxbio micro-dystrophin gene therapy compound. doi: 10.1016/j.omtn.2026.102901

#apapaday Today's pick was selected by Yuzu and is from the British Journal of Pharmacology by Tulimiero et al on testing L-citrulline in the mdx mouse model for Duchenne alone or in combination with prednisone. Funded by @duchennenl.bsky.social doi: 10.1111/bph.70437

#apaperaday Today's 🧵is later than normal because other things came up. The pick is from @science.org translational medicine by Korff et al on using downregulation of HNRNPH2 to increase compensatory HNRNPH1 expression with antisense oligonucleotides (ASO). 10.1126/scitranslmed.adx3491

New paper out! On @biorxivpreprint.bsky.social for a while already, but now formally published in Journal of Patholoy. Nice collaboration within LUMC, but also with experts from USA and UK and featured in Laura Heezen's thesis (Dr Heezen now) pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/...

#apaperaday Today's pick is on a study of fibroadipogenic progenitor (FAP) cells in the d2/mdx mouse model for Duchenne published in @journalnd.bsky.social by Fusagawa et al. FAPs are normally involved in muscle regeneration but can also steer pathology. DOI: 10.1177/22143602261441956

#apaperaday Today's pick is a very interesting way to use splice modulation as a treatment for Rett syndrome by Tirumala in @science.org translational medicine. The antisense oligonucleotide (ASO) component is small, but lots of proof-of-concept evidence DOI: 10.1126/scitranslmed.adq4529

#apaperaday Today's pick is from Shkreta et al in @moltherapy.bsky.social nucleic acids on testing whether supposed missense variants in POL3RA cause missplicing. Important question, but I question the validity of some of the methods used. DOI: 10.1016/j.omtn.2026.102850

New paper out in @journalnd.bsky.social Lessons learned from 15 years TREAT-NMD Advisory Committee for Therapeutics (TACT). As people who have written reports with large numbers of authors will recognize, it was a long time coming, but it is finally out now🥳 journals.sagepub.com/doi/pdf/10.1...

#apaperaday Today's pick is from @nejm.org by Laux et al on clinical trials of @stoketherapeutics.bsky.social Zorevunersen, the TANGO antisense oligonucleotide (ASOs) in patients with Dravet Syndrome doi 10.1056/NEJMoa2506295

#apaperday Again a pick from Italian authors, by Capasso et al in osteoporosis international on a retrospective studies in a large Italian Duchenne cohort to identify risk factors for vertebrae fractures. doi: 10.1007/s00198-026-07990-y

#apaperaday Today's pick is by Pane et al in Annals of clinical & translational neurology on real world evidence of safety/tolerability of givinostat in Duchenne. Disclosure: I consult for the company that produces givinostat (italfarmaco), but was not involved in this study. Doi 10.1002/acn3.70397

#apaperaday Today's pick is by Nakayama et al in @naturemedicine.bsky.social the publication about Valeriasen that just appeared. N=1 Collaborative origami paper because of the link to N1C and because the first author is Japanese. DOI: 10.1038/s41591-026-04314-9

#apaperaday A pick by Sevarika et al in Journal of Controlled Release on lipid nanoparticle (LNP) mediated delivery of enzymes. Today's pick is outside of my area of expertise, but will try to do my best. Yuzu preferred scratches over confetti making DOI 10.1016/j.jconrel.2026.114859

#apaperaday Today's pick is a brief response to an earlier #apaperaday on a Duchenne patients with euglycemic ketoacidosis after dapagliflozin treatment. The response is by Stollberger in Internal and Emergency Medicine. Also: Yuzu is back! DOI: 10.1007/s11739-026-04328-8

#apaperaday with another Duchenne themed special to commemorate the AMM/Only meeting in Monaco. Today’s pick is by Li et al in @plosone.org on the natural history of Duchenne patients in China doi 10.1371/journal.pone.0345023

1st post holiday trip to Monegasque Association Against Myopathies/Only project with Duchenne themed picktoday & tomorrow. First pick is by Leon-Astudillo et al in @journalnd.bsky.social on sirolimus treatment in elevidys treated Duchenne patients with liver toxicity Doi 10.1177/22143602261424971

#apaperaday 1st trip post holiday to Monegasque Association Against Myopathy/Only organisation with Duchenne themed picks today & tomorrow. Starting with a paper from Leon-Astudillo in Journal of Neuromuscular diseases on treating liver toxicity post elevidys treatment. DOI 10.1177/22143602261424971

#apaperaday from the office with a new gatchapon bird. Today's pick is by Riguzzi et al, from Journal of neurology neurosurgery and psychiatry on a huge natural history study in Becker muscular patients focusing on respiratory function from @jwmdrc.bsky.social doi 10.1136/jnnp-2025-337953

#apaperaday Back from holiday. Yuzu is still with the caretaker, so you get a picture of Japanese Cherry Blossoms instead with a pick from Szwec et al, a preprint in Cell Death & Disease on Dp71 and Dp427 isoforms of dystrophin and their role in muscle regeneration. DOI 10.1038/s41419-026-08725-x

#apaperaday The last one before a holiday is a pick by Turtinen et al in Molecular Cytogenetics on a complex pathogenic variant in the dystrophin gene and the tool to identify it (optical genome mapping - used frequently recently). Doi 10.1186/s13039-025-00743-2.