@journalnd
Facilitates progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic NDMs. Editors: Carsten Bönnemann and Hanns Lochmüller. https://journals.sagepub.com/home/JND
From the JND special issue on RNA therapeutics:
Aartsma-Rus & Takeda examine the development of ASO therapies for #Duchenne muscular dystrophy and #SMA.
The article highlights scientific, clinical and regulatory lessons for future therapies.
Read it here: buff.ly/rJJb5N7
#Neuromuscular #DMD #SMA
🧬 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
🎧 New podcast out now!
Prof Laurent Servais (joining us from a busy airport) chats with Dr Grace McMacken about the future of newborn screening for neuromuscular disorders.
👉 Listen here: buff.ly/zLMcu3B
#SMA #Neuromuscular #NewbornScreening
🫀 Myocarditis is a serious risk after gene therapy for Duchenne muscular dystrophy (DMD). In this new review paper, Kaufman et al. call for proactive cardiac monitoring & risk stratification to safeguard patients receiving AAV-based therapies. #DMD #GeneTherapy #Myocarditis
🔗 buff.ly/mhlJVGK
Knowledge on early motor milestones in #DMD is limited, but this is essential given increasing newborn screening and earlier age groups in clinical trials.
📑 This research study by Lowes et al sheds new light on DMD in <5 year age group.
➡️ Full report here buff.ly/x1Y7sCl
From our latest issue 🆕 research from @uottawa.bsky.social demonstrating peripheral effects before motor neuron loss in the #SMA 2B/- mouse model. Read the #openaccess paper here: buff.ly/51H530o #spinalmuscularatrophy #neuromuscularjunction
New insights into LAMA2 related dystrophies using international registry data @cureCMD - essential info on early clinical findings and natural history. Check out the full #openaccess paper here buff.ly/1zO5RUn
New #openaccess review by Dangouloff et al covers newborn screening (NBS) for neuromuscular diseases like SMA, Duchenne, Pompe, and X-ALD. Early diagnosis is crucial for effective treatment, but NBS is still underused.
Read more: buff.ly/tIqTeZy
#Genomics #RareDiseases
New original research from Manon et al provides novel insights into #myotonicdystrophy type 2, from the Dutch neuromuscular database. Their study shows ncreased risk of cardiac disease, pneumonia, and malignancies. Read the full report here: buff.ly/LhquCrS
NEW research paper in JND = open label extension study of the neonatal Fc receptor inhibitor Rozanolixizumab #MyastheniaGravis:
- Clinically meaningful and consistent improvement
- Acceptable safety profile
- Beneficial in AChR and MuSK MG
Read the report here journals.sagepub.com/doi/full/10....
The power of collaboration and data sharing for #raredisease. The data from this report from @TREAT_NMD is from more than 1700 patients with #myotonicdystrophy type 2, the largest cohort ever reported. Read it in full here:
New research by Hayes et al. - the "semitendinosus sign" can be a useful diagnostic tool in titin-related myopathy. Read the full paper here:
📊 In a first of its kind study, Ashrafi et al. compares real-world efficacy of oral risdiplam vs intrathecal nusinersen in 125 children with SMA type 2 and 3 over 6 months.
Read the full report here: https://journals.sagepub.com/doi/epub/10.1177/22143602241288087
#SMA #RareDisease
How many countries are screening newborns for #SMA? A new paper by Vrščaj et al surveys 86 experts from 80 countries on current implementation, therapy access, and future projections. Read the full paper here: https://journals.sagepub.com/doi/full/10.1177/22143602241288095
The latest issue of JND can be found here: journals.sagepub.com/toc/JND/curr...
Here you can also find the author and submission guidelines, editorial board and further journal statistics.