#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

#apaperaday is back from hibernation. Happy new year! Today's pick is by Sun et al in Clinical Chemistry on a detailed analysis of duplications mutations in the DMD gene. Important work as with duplications things are not always straightforward. DOI: 10.1093/clinchem/hvaf136

⏰ Save $250! Join us this March for the joint Keystone Symposia on Precision Genome Engineering & Nucleic Acid Therapeutics & Targeted Delivery. Register by Jan. 8 (11:59 pm MST). 🔗 keysym.us/KSGenomeEng26 🔗 keysym.us/KSNATherapy26 @weissmanlab.bsky.social @jbdsf.bsky.social @oligogirl.bsky.social

#apaperaday The last pick of the year is a paper by Stunnenberg et al from 2020 published in @mdpiopenaccess.bsky.social healthcare about the generation of an ethical framework to assess if traditional N-of-1 trials are care or research. doi: 10.3390/healthcare8010049.

The last #apaperaday of the year will appear tomorrow rather than today because my last 2025 day in LUMC is booked the whole day with meetings. Stay tuned and enjoy this picture of my desk and the @giantmicrobes.bsky.social collection

#apaperaday Today's pick is from a special issue on Duchenne in Archives de Pediatrie (French archives of pediatrics) by Leturcq et al on genetic counseling, prenatal diagnosis and newborn screening in Duchenne. DOI: 10.1016/S0929-693X(25)00256-8

#apaperaday Today's pick was deemed premium confetti material by Yuzu. It is from @science.org translational medicine by Dulos et al, on testing an ADAMTS-5 inhibitor in 2 mouse models for Duchenne. These inhibitors should reduce inflammation and fibrosis. DOI: 10.1126/scitranslmed.ado2112

#apaperaday Where we have an Xmas themed scavenger hunt in our Department - found 2 Xmas ducks already 🥳 Today's pick is from Yuan et al in Application of Clinical Genetics on molecular sleuthing to discover why a patient with an in-frame deletion presented with Duchenne DOI: 10.2147/TACG.S544691

#apaperaday A Duchenne themed pick to commemorate Duchenne Patient Academy meeting happening tomorrow. The pick is on the experience of parents who receive a false positive result in newborn screening analysis for Duchenne, by Tzeng et al from Journal of Genetic Counseling. Doi 10.1002/jgc4.70141

#apaperaday Today’s splicing themed pick again commemorating today's Heinrich Wieland Symposium in Munich. The pick is from Scientific Reports by Hashikami et al on exon skipping on the Col4a5 gene to bypass a nonsense variant in a mouse model for Alport syndrome. Doi 10.1038/s41598-025-25447-w.

#apaperaday Today & tomorrow is splice modulation themed to commemorate the Heinrich Wieland Prize Symposium happening tomorrow (Adrian Krainer will win, hence the theme). We kick off with a @biorxivpreprint.bsky.social by Dame et al on splice modulation for epilepsy. doi: 10.1101/2025.10.22.683934

#apaperaday Today a pick from @journalnd.bsky.social by Benchetrit et al with a systematic analysis of paediatric investigational plans (PIPs) for Duchenne therapies as submitted to the Paediatric Committee (PDCO) of the EMA. doi: 10.1177/22143602251397736

#apaperaday Today's pick is from Gene Therapy by Fawzi Osman et al on real world experience with Elevidys in a series of 8 Duchenne patients in Qatar. DOI: 10.1038/s41434-025-00580-3

#apaperaday on imaging today as this was discussed yesterday at the @euronmd.bsky.social TREAT-NMD translational summer school by @kanhermien.bsky.social Today's pick a systematic review is from @journalnd.bsky.social by Todd et al DOI: 10.1177/22143602251360664

The last 18 months Shin'ichi Takeda and I have been working as guest editors for a special issue on RNA therapeutics for @journalnd.bsky.social The issue is now complete. For a summary/teaser, read our editorial. pubmed.ncbi.nlm.nih.gov/41342671/

Earlier this year @worldduchenne.bsky.social organized a Drug Development Round Table Meeting to discuss challenges affecting Duchenne therapy development. A meeting report is now published in @journalnd.bsky.social pubmed.ncbi.nlm.nih.gov/41342650/

#apaperaday Not every day this week as the @euronmd.bsky.social TREAT-NMD translational summerschool is ongoing. A pick from Biomedicine and Pharmacotherapy by Muntuano et al on the treatment effects of a growth hormone secretagogue in a Duchenne mouse mouse model. doi: 10.1016/j.biopha.2025.118767

#apaperaday Today's pick is by Kumai et al on an individual who turned out to have Becker muscular dystrophy but who was diagnosed because he developed rhabdomyolysis due to anesthesia. Published in Internal Medicine. Very nice example of a good case report! DOI: 10.2169/internalmedicine.5972-25

#apaperaday Please note that next week it will be #afewpaperaweek because of a busy schedule with the @euronmd.bsky.social TREAT-NMD translational training school happening in Leiden. Yours truly will be teaching, chairing sessions and leading working groups.

#apaperaday Unexpectedly working from home, so an older pick from the 'from home' pile by Young Jeon et al on EZH2 inhibition in Duchenne models published in Science Advances. NB: the title hides that the authors also so single cell sequencing and spatial transcriptomics DOI: 10.1126/sciadv.adr4443

#apaperaday Today one of my favorite types of papers, i.e. a strange pathogenic variant in the dystrophin gene, where one would expect Duchenne, but sees Becker and there is a genetic explanation, by Naruse et al in Annals Neurology DOI: 10.1002/ana.78096

#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035

#apaperaday Today's pick is by Ashwini Balchandran et al on using delivery conjugates for antisense oligonucleotides (ASO) to deliver them to cancer cells, published in RSC (royal society of chemistry) advances. DOI: 10.1039/d5ra05904f

#apaperaday Today's pick is an older paper by Silva-Santos et al in @jci.org from 2015 about a systematic analysis in mice to assess when starting expression of Ube3a, which is lacking in Angelman syndrome, a neurodevelopmental disease, still has impact on which aspects. DOI: 10.1172/JCI80554

#apaperaday Today's pick is from @natcomms.nature.com by Esper et al on the consequences of lack of dystrophin during mouse embryogenic muscle formation. Yuzu was not interested in the paper and preferred playing. DOI: 10.1038/s41467-025-64999-3

#apaperaday Today a case report by Gutierrez-Baena et al in Internal and emergency medicine, on a Duchenne patient with euglycemic ketoacidosis due to dapaglifozin (a medicine that prevents glucose reabsorption by the kidney, a treatment for diabetes & heart failure). DOI: 10.1007/s11739-025-04058-3

#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006

#apaperaday Hot from the press, the @natcomms.nature.com paper by Mathews et al on the relationship between Htt expression and somatic instability in Huntington's disease mouse models. Partly presented already at conferences, but now the full story. DOI: 10.1038/s41467-025-64936-4

#apaperaday Today's pick is from @narjournal.bsky.social by Stratton et al on testing antisense oligonucleotides (ASOs) for exon 5 skipping in a pig model for CLN3 Batten disease. Obviously my office pigs had to feature. DOI: 10.1093/nar/gkaf1141

#apaperaday Action Duchenne special from Hinckley Island with a pick from Jurlina et al from journal of genetic counseling on how prenatal genetic counselors discuss treatment options with females at risk of having sons with Duchenne. doi: 10.1002/jgc4.70127

#apaperaday Today & tomorrow there will be a DMD themed series to commemorate the Action Duchenne conference that takes place. The glass house is with me, but also got acquainted with some of my office pets. Today's pick is on caregiver perception of Elevidys effects. doi: 10.1007/s40120-025-00842-7

#apaperaday Today's pick is hot off the press: the @nejm.org sounding board paper from @fda.gov Prasad et al on the plausible mechanism pathway for individualized base/gene editing treatments for eligible patients. DOI: 10.1056/NEJMsb2512695

#apaperaday Today's pick is by Vorontsova et al published in @mdpiopenaccess.bsky.social International Journal of Molecular Sciences, a case report of 3 females with Duchenne muscular dystrophy due to translocations involving the dystrophin gene. DOI: 10.3390/ijms26199389

Instead of Klaus the coming weeks I'll be traveling with a mini-glass house to raise awareness for muscle diseases and the special "Glazen Huis" action in December to raise money for children affected by muscle diseases www.linkedin.com/posts/annemi...

#apaperaday back home. Reunited with Yuzu who is mainly interested in scratches and not confetti making of today's pick in @pnas.org by Cohen et al on the use of synthetic bottlebrush block copolymers to stabilize muscle fiber membranes in a mouse model of Duchenne. Doi 10.1073/pnas.2513599122

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).