#apaperaday Today's penultimate pick before a holiday break is from Journal of Neurology by Lochmuller et al on a study of vamorolone in older Duchenne patients who were or were not transitioning from steroid use. Doi 10.1007/s00415-026-13711-6.

#apaperaday Back at LUMC with a pick from De Bellis et al in @mdpiopenaccess.bsky.social Biomedicines: a review on renal involvement in Duchenne muscular dystrophy patients. 10.3390/biomedicines14010230 NB: after this there will be 2 more #apaperadays before a break until mid April

#apaperaday final @keystonesymposia.bsky.social KSNATherapy special with a pick from @moltherapy.bsky.social Nucleic Acid by Blitek et al on the use of a gene therapy approach to improve angiogenesis in mice to improve ASO delivery. doi 10.1016/j.omtn.2026.102834

#apaperaday @keystonesymposia.bsky.social #KSNATherapy26 special part 4 has fresh snow. The pick is from @natcomms.nature.com by Fatavelli et al with a thorough study on organoids for spinal muscular atrophy doi 10.1038/s41467-025-67725-1.

#apaperaday @keystonesymposia.bsky.social #KSNATherapy special part 3: Today a paper somewhat outside of my area of expertise but an important topic: a method to detect ASO (PMO) levels in serum by Kameyama et al published in Bioanalysis doi 10.1080/17576180.2026.2632688

We also have hashtags #KSNATherapy26 and #KSGenEng26 I will be mostly at the NATherapy side of the conference, shedding origami animals as usual

#apaperaday part 2 of the @keystonesymposia.bsky.social NAT delivery special with a review on bioconjugates for delivery of antisense oligonucleotides (ASO) to the central nervous system (CNS) by Jin Lee et al in Advanced Drug Delivery Reviews doi 10.1016/j.addr.2026.115778.

#apaperaday @keystonesymposia.bsky.social special! Klaus & I made it to Banff for the nucleic acid therapy delivery conference. Today’s pick is from Nucleic Acid Therapeutics (NAT) by Andersson et al: an update on assessing hybridization dependent off target risks for NATs. doi 10.1089/nat.2024.0072

#apaperaday Today's pick is from BMC Neurology by Strober et al on an analysis of caregiver burden for Duchenne muscular dystrophy in 3 different regions (USA, Europe and Japan). Usually these studies focus on only one country. doi: 10.1186/s12883-025-04531-8

#apaperaday Today's pick is about a long term follow up study of women with pathogenic variants in the dystrophin gene by Lyu et al in @journalnd.bsky.social Very good to study these women in more detail. doi: 10.1177/22143602251408549

#apaperaday Today's pick is a @biorxivpreprint.bsky.social by Boone et al on recursive splicing of the CADM2 gene and the potential association with a deletion of a recursive splice site with ADHD. DOI: 10.1101/2025.08.14.666599

#apaperaday Sunday Duchenne Parent Onlus special with a pick from @worldmusclesociety.org journal Neuromuscular Disorders by Zwingli et al on the open label extension study for tamoxifen in Duchenne patients. Doi. 10.1016/j.nmd.2026.106366

🧬 New Special Issue of JND out today to celebrate #RareDiseaseDay: “RNA Therapeutics in Neuromuscular Disorders” Exploring RNA-targeted approaches in Duchenne muscular dystrophy, Spinal muscular atrophy, Myotonic dystrophy and more: buff.ly/JOtdEJb #Neuromuscular #RNAtherapeutics #DMD #SMA #DM1

#apaperaday Duchenne Parent Onlus themed from Rome for the annual meeting on Duchenne & Becker on rare disease day! 🤗Today a case report in Pediatrics by Drakou et al on a Duchenne patient with liver injury after elevidys treatment with a suggestion for earlier detection.DOI 10.1542/peds.2025-074192

#apaperaday Today's pick is Duchenne Parent Onlus meeting themed (their meeting is happening today-Sunday) with a first paper from Mickle et al on the natural history of Becker muscular dystrophy in @journalnd.bsky.social doi: 10.1177/22143602261420045

#apaperaday Today's pick is by Kord and Siu in Journal of Medical Genetics on 3 cases of families where an in-frame dystrophin deletion was 'asymptomatic' (I will argue there were symptoms, just not in skeletal muscle). DOI: 10.1136/jmg-2025-111103

#apaperaday With a cool paper by Sarde et al from @natcomms.nature.com on life imaging of muscle stem cells in muscle fibers from wild type and mdx mice doing also cross transplantation analysis. There are ample movies as supplementary files too. DOI: 10.1038/s41467-026-68474-5

#apaperaday with an origami request I received. Today's pick is on the Pfizer phase 3 clinical trial with fordadistrogene movaparvovec (AAV9 microdystrophin) by Muntoni et al published in @thelancetneuro.bsky.social Primary endpoint was sadly not met. doi: 10.1016/S1474-4422(26)00036-0.

#apaperaday with my latest origami animal (a Quetzalcoatl, though it also looks like pokemon Abra). Today's pick is from @frontiersmedia.bsky.social Neurology by Lee et al on using a Lactobacillus Casei to express myostatin and induce an antibody response in mdx mice. DOI: 10.3389/fneur.2025.1693484

#apaperaday Today's pick is by Wang et al published in @dmmjournal.bsky.social on a Duchenne rat model with a deletion of exon 45 in rat dystrophin gene (one of the most common deletions in human dystrophin gene). Obviously I had to make an origami rat to decorate the paper. doi: 10.1242/dmm.052578

#apaperaday with some delay due to train issues this morning. The pick is from @worldmusclesociety.org journal Neuromuscular Disorders, by Ulm Seiwert et al on 3 cases with duplications of dystrophin exons, only one of which associated with dystrophinopathy. DOI: 10.1016/j.nmd.2026.106335

#apaperaday Today's pick (with Duchenne UK & N=1 Collaborative origami paper) is by Shieh et al in Human Gene Therapy on learnings from the 2 fatal cases of acute liver failure after elevidys treatment, from a group of clinicians, experts and Sarepta representatives. DOI: 10.1177/10430342261423168

#apaperaday We are back with a pick by Gaci from Aurelie Goyenvalle's group on identifying proteins that bind to phosphorothioate (PS) backbones of antisense oligonucleotides published in @moltherapy.bsky.social nucleic acids. doi: 10.1016/j.omtn.2026.102832

#apaperdaday will skip a day as a new employee is starting today at the Dutch Center for RNA Therapeutics and this combined with being away last week due to the TREAT-NMD conference makes for a very full agenda. Will be back tomorrow. Stay tuned.

#apaperaday Final TREAT-NMD conference themed paper on the day I travel back home, with a comment by Madaan et al on Elevidys gene therapy for Duchenne from the South Asian Country perspective, published in The Lancet Regional Health – Southeast Asia. Doi 10.1016/j.lansea.2025.100699.

#apaperaday again TREAT-NMD conference themed with today a pick from Scientific Reports by Okada et al, where they used a Japanese Duchenne patient registry (affiliated to the TREAT-NMD global registry) to generate a cost effectiveness analysis model. Doi 10.1038/s41598-025-32735-y

#apaperaday TREAT-NMD conference themed still, with a review by Loboda et al from @moltherapy.bsky.social Nucleic Acids on genetic strategies for Duchenne muscular dystrophy anticipating tomorrow’s challenges of gene therapy session and today’s keynote Terry Flotte. Doi 10.1016/j.omtn.2025.102759

#apaperaday will be TREAT-NMD conference themes the rest of the week for the TREAT-NMD conference (traveling to Lisbon soon). The pick is by Veerapandiyan et al in Cureus on a study with primary care givers with regards to diagnostic delays for NMDs. doi: 10.7759/cureus.99306

#apaperaday Today's pick is a collaborative study of Sarepta and Academics to assess the effect of peptide conjugated PMOs (PPMOs) on the respiratory function of the mdx Duchenne mouse model by Biswas et al in @moltherapy.bsky.social Nucleic Acids. DOI: 10.1016/j.omtn.2025.102810

#apaperaday Duchenne UK conference themed, with a pick from Kukulka et al in pediatric neurologcy on ethical considerations related to the increasing life expectancy of Duchenne patients in an evolving landscape of treatment options. DOI 10.1016/j.pediatrneurol.2025.11.020 Klaus was daunted by LHR

#apaperaday Today and tomorrow will be Duchenne themed due to the Duchenne UK New Horizons conference taking place in London (Yuzu wants to come too). Today's pick is by Rosenthal et al in Pediatric transplantation on advanced cardiac therapy in Duchenne. doi: 10.1016/j.nmd.2026.106338.

No #apaperaday tomorrow as I will teach at a primary school! This is part of the 'meet the professor' event @iclon.bsky.social organizes every year for the @unileiden.bsky.social dies natalis (february 7, but celebrated on February 9). My teaching is early due to the TREAT-NMD conference next week.

#apaperaday Forced to work from home due to a lack of trains (to Yuzu's delight). The pick is from @narjournal.bsky.social molecular insights by Ottesen et al on a study of off target effects of a MOE/PS ASO (the title does not mention the name, but it is nusinersen). doi: 10.1093/narmme/ugag002

#apaperaday is a publication in @naturemedicine.bsky.social on the rugonersen antisensense oligonucleotide (ASO) clinical trial in Angelman Syndrome that was published last year by Hipp et al and which I somehow missed DOI: 10.1038/s41591-025-03784-7

#apaperaday heads up: Next week there will be NO #apaperaday on Monday and Tuesday due to a 1M1M meeting with a very early morning start. However, there will be a Duchenne UK special on Friday and Saturday. The week after from Tuesday-Friday there will be the TREAT-NMD conference special. Stay tuned

#apaperaday Today's pick is from Journal of Cystic Fibrosis by Stanleigh et al on testing cryptic splicing restoring antisense oligonucleotides (ASOs) for the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 2D and organoid models. DOI: 10.1016/j.jcf.2026.01.001

#apaperaday Back in the office with a non-Duchenne pick and an origami hammerhead shark (latest addition to the repertoire). Today's pick is from Neurology by Dies et al on the role of academic centers in personalized experimental therapy development. DOI: 10.1212/WNL.0000000000214610

#apaperaday Today's pick is on microbiomes of mdx & wild typemice & the impact of transferring them between the 2, by Butcher et al in @faseborg.bsky.social journal. Read it at home but given the topic have to show off my @giantmicrobes.bsky.social office collection too. doi: 10.1096/fj.202502999R

#apaperaday from home due to a medical appointment, so had to resort to the home paper pile, which again is dystrophin related, with a preprint from Scientific Reports by Xuan et al on the impact of lack of dystrophin on vascular smooth muscle cells. doi: 10.1038/s41598-025-29484-3.

#apaperaday Last part of the TREAT-NMD related week is on dystrophin restoration in the brain of a mouse model by Vacca et al from Aurelie Goyenvalle's group in Molecular Therapy Nucleic Acids. While dystrophin was restored, there was no impact on behavior. Doi 10.1016/j.omtn.2025.102779

#apaperaday Part 4 of the TREAT-NMD themed week is on newborn screening by Falk et al in Muscle and Nerve. The focus is on how to predict whether high creatine kinase (CK) levels were due to other factors related to the birth or to Duchenne. DOI 10.1002/mus.70089

#apaperaday Still TREAT-NMD themed, now switching to the caregiver perspective with a pick from Dunne et al published in advanced therapies on how caregivers balance caregiving and working and which impact the caregiving has on employment and working hours. Doi 0.1007/s12325-025-03471-6

#apaperaday Part 2 of TREAT-NMD themed week by Sbrocchi et al on how to manage adrenal suppression in Duchenne patients when transitioning to vamorolone published in journal of the endocrine society. Not straightforward because vomorolone is mineralcorticoid antagonist. Doi: 10.1210/jendso/bvaf181

#apaperaday from Newcastle this week at TREAT-NMD HQ with a neuromuscular disease themed week, starting with a pre-proof by Duan and Herzog to be published in Molecular Therapy on deaths observed in Duchenne gene therapy. Not a nice topic but an important one. doi: 10.1016/j.ymthe.2025.12.067.

#apaperaday Today's pick is on the biodistribution of tofersen (an antisense oligonucleotide approved for SOD1-ALS) in rats, non human primates and healthy volunteers using a radioactive tracer by Cook et al in the Journal of Nuclear Medicine. DOI: 10.2967/jnumed.125.270731

#apaperaday A paper by Siemionow et al in Stem Cell Reviews and Reports on the treatment of 3 non ambulatory Duchenne patients with a stem cell treatment. Note that I object to the scientific rationale and the hyped reporting of this (aka I do NOT endorse the message of this paper).

#apaperaday Today's pick is a brief report by Kress et al in @worldmusclesociety.org journal neuromuscular disorders on the identification of a pathogenic variant in a Becker patient who descended from the family originally reported by Dr Becker (and Kiener) . DOI: 10.1016/j.nmd.2025.106281

Transcript imbalance is a difficult/complex thing that is very pertinent for dystrophin transcripts, and as such has an impact on exon skipping, how efficient it can be, and how to properly assess exon skipping levels and why exon skipping levels are not 1:1 leading to dystrophin restoration levels

First paper of the year out (obviously written and accepted in 2025) in @worldmusclesociety.org journal neuromuscular disorders. It is a perspective with Rachele Rossi, Aurelie Goyenvalle, Pietro Spitali and Francesco Muntoni on dystrophin transcript imbalance www.sciencedirect.com/science/arti...

#apaperaday Today's pick is hot of the press: the 2 year analysis of EMBARK study with delandistrogene moxeparvovec (aka Elevidys) in ambulatory Duchenne patients. Already presented at conferences, now out as a peer reviewed paper in Neurology Therapy by Mendell et al DOI: 10.1007/s40120-025-00879-8