Paper a day Archives • World Duchenne

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#apaperaday: Mineralocorticoid receptor antagonists and glucocorticoids differentially affect skeletal muscle inflammation and pathology in muscular dystrophy

Mineralocorticoid receptor antagonists and glucocorticoids differentially affect skeletal muscle inflammation and pathology in muscular dystrophy

#apaperaday: Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases

Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases

#apaperaday: A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy

A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy

#apaperaday: Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

#apaperaday: Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy

Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy

#apaperaday: Cognitive and behavioral functioning in two neurogenetic disorders: Duchenne muscular dystrophy and Neurofibromatosis type 1

Cognitive and behavioral functioning in two neurogenetic disorders: Duchenne muscular dystrophy and Neurofibromatosis type 1

#apaperaday: A cell-penetrating peptide enhances delivery and efficacy of phosphorodiamidate morpholino oligomers in mdx mice

A cell-penetrating peptide enhances delivery and efficacy of phosphorodiamidate morpholino oligomers in mdx mice

#apaperaday: Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders

Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders

#apaperaday: Siblings’ life aspirations in the context of Duchenne muscular dystrophy

Siblings’ life aspirations in the context of Duchenne muscular dystrophy

#apaperaday: Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy

Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy

#apaperaday: RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

#apaperaday: The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

#apaperaday: Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy

Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy.

#apaperaday: Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy

Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy

#apaperaday: The gRNA Vector Level Determines the Outcome of Systemic AAV CRISPR Therapy for Duchenne Muscular Dystrophy

The gRNA Vector Level Determines the Outcome of Systemic AAV CRISPR Therapy for Duchenne Muscular Dystrophy

#apaperaday: Factors associated with the health-related quality of life among people with Duchenne muscular dystrophy

Factors associated with the health-related quality of life among people with Duchenne muscular dystrophy

#apaperaday: Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

#apaperaday: Antioxidant effects of bis-indole alkaloid indigo and related signaling pathways in the experimental model of Duchenne muscular dystrophy

Antioxidant effects of bis-indole alkaloid indigo and related signaling pathways in the experimental model of Duchenne muscular dystrophy

Facilitating [corrected] More Efficient Negotiations for Innovative Therapies- A Value-Based Negotiation Framework

#apaperaday: Facilitating More Efficient Negotiations for Innovative Therapies

Facilitating More Efficient Negotiations for Innovative Therapies: A Value-Based Negotiation Framework

#apaperaday: Pig models for Duchenne muscular dystrophy

Pig models for Duchenne muscular dystrophy - from disease mechanisms to validation of new diagnostic and therapeutic concepts.

#apaperaday: Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy?

Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy?

#apaperaday: Transplantation of human iPSC-derived muscle stem cells in the diaphragm of Duchenne muscular dystrophy model mice

Transplantation of human iPSC-derived muscle stem cells in the diaphragm of Duchenne muscular dystrophy model mice

#apaperaday: Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited DMD mice

Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited DMD mice

#apaperaday: Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

#apaperaday: mRNA-mediated delivery of gene editing tools to human primary muscle stem cells

mRNA-mediated delivery of gene editing tools to human primary muscle stem cells

#apaperaday: Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

#apaperaday: Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis

Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis

#apaperaday: Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy

Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy

Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy

#apaperaday: Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy

Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne muscular dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network Today’s pick is from World Muscle Society journal Neuromuscular Disorders by Paramdothy et al on the factors that influence mortality in Duchenne patients in the USA who were part of MD STARNet doi 10.1016/j.nmd.2022.04.008. Duchenne is a severe progressive muscle wasting disease sadly leading to loss of function & premature death. With improved care, the age of death has increased in the past decades. However, no study has been done yet in the USA. Here authors looked into the MDStarnet database IMAGE Looking into causes of mortality is looking into the past. Authors considered only patients born between 1982 and 1999 as they are old enough to maybe have died. As you can see in the graph below ~25% of 30 year olds are still alive. However, sadly many died earlier IMAGE The mean age of death in the USA was 23.7 years, which is similar to previous reports from other countries. While these analyses may seem a bit morbid, they can inform us about which aspects can protect against mortality. This is analysis the authors did as well. Protective: using steroids (continued after loss of ambulation), using a cough assist and having undergone scoliosis surgery. No difference was found between type of steroid. No effects of use of cardiac medication was seen - however, most patients were not treated presymptomatic Authors discuss that a Japanese study suggests that treating patients presymptomatically (as the current care standards also suggest) was protective. The protective effect of scoliosis surgery is a bit puzzling and was not found by most other studies. Generally patients who develop scoliosis severe enough to require surgery are very severely affected. Possibly the patients undergoing scoliosis attended more expert care sites, while others - though needing surgery - were not offered the option (my own speculation) Authors also identified that non-Hispanic black Duchenne patients had an increased risk of mortality. They noticed before that the average age of diagnosis and (thus) age of initiating steroids were later. This may have played a role. Socioeconomic status may also have contributed Authors discuss limitations of their study e.g. this study only involves USA patients who attended US Starnet clinics so it is not representative of all USA patients. Another limitation is that this focuses on patients born long ago who did not have current multidisciplinary care There is no solution for this limitation as we cannot look into the future. However, it is clear that many care guidelines that are in play (steroid use, cough assist) have a clear impact not only on disease progression but also on mortality.

#apaperaday: Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy

Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy

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#apaperaday: Mineralocorticoid receptor antagonists and glucocorticoids differentially affect skeletal muscle inflammation and pathology in muscular dystrophy

#apaperaday: Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases

#apaperaday: A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy

#apaperaday: Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

#apaperaday: Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy

#apaperaday: Cognitive and behavioral functioning in two neurogenetic disorders: Duchenne muscular dystrophy and Neurofibromatosis type 1

#apaperaday: A cell-penetrating peptide enhances delivery and efficacy of phosphorodiamidate morpholino oligomers in mdx mice

#apaperaday: Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders

#apaperaday: Siblings’ life aspirations in the context of Duchenne muscular dystrophy

#apaperaday: Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy

#apaperaday: RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

#apaperaday: The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands

#apaperaday: Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy

#apaperaday: Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy

#apaperaday: The gRNA Vector Level Determines the Outcome of Systemic AAV CRISPR Therapy for Duchenne Muscular Dystrophy

#apaperaday: Factors associated with the health-related quality of life among people with Duchenne muscular dystrophy

#apaperaday: Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

#apaperaday: Antioxidant effects of bis-indole alkaloid indigo and related signaling pathways in the experimental model of Duchenne muscular dystrophy

#apaperaday: Facilitating More Efficient Negotiations for Innovative Therapies

#apaperaday: Pig models for Duchenne muscular dystrophy

#apaperaday: Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy?

#apaperaday: Transplantation of human iPSC-derived muscle stem cells in the diaphragm of Duchenne muscular dystrophy model mice

#apaperaday: Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited DMD mice

#apaperaday: Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

#apaperaday: mRNA-mediated delivery of gene editing tools to human primary muscle stem cells

#apaperaday: Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

#apaperaday: Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis

#apaperaday: Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy

#apaperaday: Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy

#apaperaday: Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy

Road to independence: Documentary about young people with NMD

Webinar Recording: Understanding the role of dystrophin in the brain in DMD/BMD

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