2f:I[703058,["/_next/static/immutable/chunks/3bhq_5eh1d760.js","/_next/static/immutable/chunks/1855-ogyi8eh4.js","/_next/static/immutable/chunks/2pfsjpn6k6zlg.js","/_next/static/immutable/chunks/26c7v3_3uwnwu.js","/_next/static/immutable/chunks/25a3ozcrvi1ff.js","/_next/static/immutable/chunks/2r4wx50nvjh_4.js","/_next/static/immutable/chunks/23fsw06hsi5b1.js","/_next/static/immutable/chunks/06_yt270h41rg.js","/_next/static/immutable/chunks/3ezsiz-7shkna.js","/_next/static/immutable/chunks/20x2y96ldu5wx.js","/_next/static/immutable/chunks/2lxntcm3pd1_h.js","/_next/static/immutable/chunks/00dgco8irq3jw.js","/_next/static/immutable/chunks/00nwe-kq0rboc.js","/_next/static/immutable/chunks/2051ffx3xzio9.js"],"PaperListPageClient"] 30:T5f0,To develop a brief, reliable, and valid screening tool and to provide normative data for the identification of individuals with Duchenne muscular dystrophy (DMD) at risk of brain-related comorbidities. An 18-item proxy/self-report screening tool covering nine comorbidity areas was developed on the basis of existing literature and expert consensus, and translated into 11 languages. In this cross-sectional observational study, data from 835 individuals with DMD (aged 5-42 years) were used to assess reliability, construct validity, and diagnostic accuracy. A subsample of 90 participants completed cognitive and behavioural assessments for concurrent validity analyses. The Brain Involvement iN Dystrophinopathies (BIND) screener showed excellent internal consistency (α = 0.89) and a factor structure aligned with theoretical domains. Age-related patterns were observed across domains. The total score (Duchenne Brain Comorbidity Score) correlated with clinical and cognitive markers in the validation subsample. Receiver operating characteristic analysis in the full sample yielded an area under the curve of 0.78, with a cut-off score of 20/72 providing optimal sensitivity (71.6%) and specificity (72.5%) for identifying parent- or self-reported neurodevelopmental conditions previously diagnosed by professionals. The BIND screener is a brief, psychometrically robust tool that facilitates early identification of brain-related comorbidities in DMD and may be applied in both clinical practice and research.31:T8f1,Abstract Aim To develop a brief, reliable, and valid screening tool and to provide normative data for the identification of individuals with Duchenne muscular dystrophy (DMD) at risk of brain‐related comorbidities. Method An 18‐item proxy/self‐report screening tool covering nine comorbidity areas was developed on the basis of existing literature and expert consensus, and translated into 11 languages. In this cross‐sectional observational study, data from 835 individuals with DMD (aged 5–42 years) were used to assess reliability, construct validity, and diagnostic accuracy. A subsample of 90 participants completed cognitive and behavioural assessments for concurrent validity analyses. Results The Brain Involvement iN Dystrophinopathies (BIND) screener showed excellent internal consistency ( α = 0.89) and a factor structure aligned with theoretical domains. Age‐related patterns were observed across domains. The total score (Duchenne Brain Comorbidity Score) correlated with clinical and cognitive markers in the validation subsample. Receiver operating characteristic analysis in the full sample yielded an area under the curve of 0.78, with a cut‐off score of 20/72 providing optimal sensitivity (71.6%) and specificity (72.5%) for identifying parent‐ or self‐reported neurodevelopmental conditions previously diagnosed by professionals. Interpretation The BIND screener is a brief, psychometrically robust tool that facilitates early identification of brain‐related comorbidities in DMD and may be applied in both clinical practice and research. 32:T660,This study was designed to identify genes for further study as modifiers of the severity of cardiomyopathy in DMD-related Duchenne Muscular Dystrophy (DMD). We evaluated genome sequencing results in a well-phenotyped DMD cohort with severe cardiomyopathy against those with less severe cardiomyopathy. Using combined annotation-dependent depletion variant annotation to look at variant burden, we created a difference between group mean (DBGM) summative C-Scores by gene. We completed analyses on three groups. For each analysis, we normalized DBGM summative C-Score and determined which genes had a value > three standard deviations from the mean in all three analyses. There were 54 DMD males in this analysis. 18 individuals (33%) had severe cardiomyopathy and 36 individuals (67%) had less severe cardiomyopathy. Nine genes were identified as possible cardiomyopathy severity modifiers: ANKLE1, ESRRA, FRAS1, GEMIN4, GXYLT1, MTCH2, PKD1L2, PRSS2 and QRFPR. DBGM summative C-Scores in well-phenotyped groups are a feasible exploratory method to identify genetic targets for additional study. There is preliminary evidence from this and other studies suggesting further evaluation of ESRRA, GEMIN4, and MTCH2 as modifiers of cardiomyopathy severity could advance understanding of DMD cardiomyopathy progression. This article identifies possible genetic modifiers of DMD cardiomyopathy severity via a novel method of looking at variant burden between groups. This adds to the existing literature by providing new evidence for modifier pathway targets for possible therapeutic targets or drug repurposing in a rare genetic disorder.33:Te89,Abstract Background This study was designed to identify genes for further study as modifiers of the severity of cardiomyopathy in DMD- related Duchenne Muscular Dystrophy (DMD). Methods We evaluated genome sequencing results in a well-phenotyped DMD cohort with severe cardiomyopathy against those with less severe cardiomyopathy. Using combined annotation-dependent depletion variant annotation to look at variant burden, we created a difference between group mean (DBGM) summative C-Scores by gene. We completed analyses on three groups. For each analysis, we normalized DBGM summative C-Score and determined which genes had a value > three standard deviations from the mean in all three analyses. Results There were 54 DMD males in this analysis. 18 individuals (33%) had severe cardiomyopathy and 36 individuals (67%) had less severe cardiomyopathy. Nine genes were identified as possible cardiomyopathy severity modifiers: ANKLE1 , ESRRA , FRAS1 , GEMIN4 , GXYLT1 , MTCH2 , PKD1L2 , PRSS2 and QRFPR . Conclusion DBGM summative C-Scores in well-phenotyped groups are a feasible exploratory method to identify genetic targets for additional study. There is preliminary evidence from this and other studies suggesting further evaluation of ESRRA , GEMIN4 , and MTCH2 as modifiers of cardiomyopathy severity could advance understanding of DMD cardiomyopathy progression. Impact

This article identifies possible genetic modifiers of DMD cardiomyopathy severity via a novel method of looking at variant burden between groups. This adds to the existing literature by providing new evidence for modifier pathway targets for possible therapeutic targets or drug repurposing in a rare genetic disorder.

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However, intermittent treatment preserved height (170.2 cm vs. 140.8 cm at age 18, p<0.001), bone mineral density Z-scores (p<0.001), and was linked to fewer vertebral fractures (p<0.001). BMI, pulmonary decline, and cardiac function trajectories were similar between regimens.","limitations":"Retrospective design introduces selection bias in regimen assignment; patients were not randomized, so confounding by indication is possible. The study draws from only three centres in Belgium and the Netherlands, which may limit generalizability. Daily regimen used deflazacort exclusively, while intermittent used either prednisone or deflazacort, making direct drug comparisons difficult.","practice_takeaway":"Daily CS offers meaningful motor and spine benefits in DMD but carries significant long-term costs to growth and bone health — a trade-off that should be discussed openly with patients and families. Shared decision-making, informed by these real-world long-term data, should guide individualised regimen choice."}},{"doi":"10.1016/s0140-6736(26)01385-1","pmid":"42526472","title":"Deramiocel heart-derived cellular therapy in advanced Duchenne muscular dystrophy (HOPE-3): a phase 3, randomised, double-blind, placebo-controlled trial","journal_title":"The Lancet","journal_issn":"0140-6736","published_at":"2026-07-29T00:00:00.000Z","url":"https://doi.org/10.1016/s0140-6736(26)01385-1","source_score":206,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-08-05T13:22:50.329Z","updated_at":"2026-08-05T13:22:50.329Z","tags":[{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"category","value":"Medicine, General & Internal","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"condition","value":"Duchenne Muscular Dystrophy","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"generic","value":"deramiocel","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"level_of_evidence","value":"1","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"modality","value":"Cellular Therapy","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"sample_size","value":"n=106","value_numeric":106},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"sex","value":"male","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"study_design","value":"Randomized Controlled Trial","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"warning","value":"Sex is inferred as male based on the X-linked nature of DMD but is not explicitly stated in the abstract.","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"warning","value":"The abstract does not report specific cardiac endpoint results; only skeletal muscle (PUL2.0) primary endpoint data are available for extraction.","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"warning","value":"The impact_flag 'practice_changing' is applied provisionally — regulatory approval has not been confirmed as of the paper's publication date.","value_numeric":null},{"paper_doi":"10.1016/s0140-6736(26)01385-1","tag_type":"warning","value":"The 'mixed' age group tag reflects a lower bound of ≥10 years with no upper age limit stated; the cohort likely spans adolescents and adults.","value_numeric":null}],"summaries":{"what_studied":"HOPE-3 evaluated deramiocel (allogeneic cardiosphere-derived cells) vs. placebo in 106 participants aged ≥10 years with advanced DMD, administered IV every 3 months for 12 months, with skeletal and cardiac function as outcomes.","key_result":"Deramiocel significantly improved the primary endpoint (total PUL2.0 score) vs. placebo at 12 months: least-squares mean percentage change favoured deramiocel by **4.55%** (95% CI 0.47–8.63; p=0.029), with a safety profile similar to placebo.","limitations":"- Relatively small sample size (n=106) for a phase 3 trial.\n- 12-month follow-up may be insufficient to capture long-term cardiac or functional outcomes in a progressive disease.\n- Cardiac outcomes are described but specific cardiac endpoint results are not reported in the abstract.","practice_takeaway":"Deramiocel, given quarterly IV in an outpatient setting, slows upper limb function decline in advanced DMD regardless of the underlying mutation. Clinicians managing advanced DMD patients should be aware of this mutation-agnostic option as it moves toward potential regulatory review."}},{"doi":"10.1212/wnl.0000000000214705","pmid":"42190145","title":"A Validated Prognostic Score for Time to Loss of Ambulation in Patients With Duchenne Muscular Dystrophy","journal_title":"Neurology","journal_issn":"0028-3878","published_at":"2026-05-26T00:00:00.000Z","url":"https://doi.org/10.1212/wnl.0000000000214705","source_score":74,"is_retracted":false,"is_open_access":false,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-06-28T13:27:22.339Z","updated_at":"2026-06-28T13:27:22.339Z","tags":[{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"age_group","value":"child","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"category","value":"Clinical Neurology","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"condition","value":"Duchenne Muscular Dystrophy","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"impact_flag","value":"practice_changing","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"level_of_evidence","value":"2","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"modality","value":"Corticosteroid","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"sample_size","value":"n=834","value_numeric":834},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"sex","value":"male","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"study_design","value":"Prognostic Score Development and Validation Study","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"warning","value":"Median follow-up in the lowest-risk group was only 2.0 years, so the 'not reached' median LoA for group 1 should be interpreted cautiously.","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"warning","value":"Sample size tag reflects the combined development (n=608) and validation (n=226) cohorts; the development and validation sets are distinct populations. The total of 834 is approximate as some overlap cannot be excluded from the abstract.","value_numeric":null},{"paper_doi":"10.1212/wnl.0000000000214705","tag_type":"warning","value":"The study design is a prognostic model development and external validation study — not a traditional RCT; level of evidence set to 2 based on well-designed prospective cohort/validation methodology.","value_numeric":null}],"summaries":{"what_studied":"A prognostic score for time to loss of ambulation (LoA) was developed in 608 corticosteroid-treated boys with DMD (mean age 9.1 years) using 4 natural history databases and 3 clinical trial placebo arms, then validated in 226 patients from the CINRG database. Predictors prioritized were rise from floor (RFF) and 10-meter walk/run (10MWR) times, classifying patients into 5 risk groups.","key_result":"Median time to LoA differed meaningfully across groups: not reached in group 1 (lowest risk), 4.4 years (95% CI 4.0–∞) in group 2, 3.0 years (95% CI 2.1–4.1) in group 3, 2.0 years (95% CI 1.6–2.1) in group 4, and 0.9 years (95% CI 0.8–1.6) in group 5 (highest risk). The score outperformed single-test thresholds previously used in practice and replicated well in the validation cohort.","limitations":"- Prediction of LoA risk beyond 4 years is limited by sparse long-term follow-up data.\n- All patients were on corticosteroids and had 6MWD ≥75 m, limiting generalizability to untreated or more severely affected patients.\n- Score is derived from observational and placebo-arm data, which may not fully reflect current treatment landscapes.","practice_takeaway":"Use the RFF and 10MWR thresholds at clinic visits to quickly assign a DMD patient to one of 5 LoA risk groups, enabling targeted counseling on mobility aids, home modifications, financial planning, and clinical trial eligibility. The score is also useful for trial stratification and inclusion criteria design."}},{"doi":"10.1111/dmcn.70145","pmid":"41531237","title":"Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the\n BIND\n screener","journal_title":"Developmental Medicine & Child Neurology","journal_issn":"0012-1622","published_at":"2026-01-14T00:00:00.000Z","url":"https://doi.org/10.1111/dmcn.70145","source_score":22,"is_retracted":false,"is_open_access":true,"raw_metadata":{"ooir":{"day":"2026-01-17","doi":"10.1111/dmcn.70145","days":"7","issn":"0012-1622","rank":"3","field":"Clinical Medicine","score":"22","category":"Pediatrics","categories":["Pediatrics"],"_categories":["Pediatrics"]},"pubmed":{"doi":"10.1111/dmcn.70145","title":"Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener.","journal":"Developmental medicine and child neurology","methods":"An 18-item proxy/self-report screening tool covering nine comorbidity areas was developed on the basis of existing literature and expert consensus, and translated into 11 languages. In this cross-sectional observational study, data from 835 individuals with DMD (aged 5-42 years) were used to assess reliability, construct validity, and diagnostic accuracy. A subsample of 90 participants completed cognitive and behavioural assessments for concurrent validity analyses.","results":"The Brain Involvement iN Dystrophinopathies (BIND) screener showed excellent internal consistency (α = 0.89) and a factor structure aligned with theoretical domains. Age-related patterns were observed across domains. The total score (Duchenne Brain Comorbidity Score) correlated with clinical and cognitive markers in the validation subsample. Receiver operating characteristic analysis in the full sample yielded an area under the curve of 0.78, with a cut-off score of 20/72 providing optimal sensitivity (71.6%) and specificity (72.5%) for identifying parent- or self-reported neurodevelopmental conditions previously diagnosed by professionals.","abstract":"$30","keywords":[],"pubmed_id":"41531237","conclusions":"","publication_date":"2026-01-14T00:00:00"},"crossref":{"DOI":"10.1111/dmcn.70145","URL":"https://doi.org/10.1111/dmcn.70145","ISSN":["0012-1622","1469-8749"],"link":[{"URL":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.70145","content-type":"application/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https://onlinelibrary.wiley.com/doi/full-xml/10.1111/dmcn.70145","content-type":"application/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.70145","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"page":null,"type":"journal-article","issue":null,"score":1,"title":["Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the\n BIND\n screener"],"author":[{"given":"Ruben","family":"Miranda","sequence":"first","affiliation":[{"name":"Department of Psychobiology and Methodology in Behavioral Sciences Universidad Complutense de Madrid Madrid Spain"}]},{"given":"Pien M. M.","family":"Weerkamp","sequence":"additional","affiliation":[{"name":"Kempenhaeghe Centre for Neurological Learning Disabilities Heeze Netherlands"},{"name":"Maastricht University, School for Mental Health and Neuroscience Maastricht Netherlands"},{"name":"Leiden University Medical Center, Department of Neurology Leiden Netherlands"}]},{"given":"Anna","family":"Kolesnik","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health UCL and NIHR Biomedical Research Centre London UK"}]},{"given":"Chloe","family":"Geagan","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}]},{"given":"Daniela","family":"Chieffo","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Catholic University Rome Italy"},{"name":"Centro Clinico Nemo Fondazione Policlinico Gemelli IRCCS Rome Italy"}]},{"given":"Mariana","family":"Suárez‐Bagnasco","sequence":"additional","affiliation":[{"name":"Department of Psychobiology and Methodology in Behavioral Sciences Universidad Complutense de Madrid Madrid Spain"}]},{"given":"David","family":"Skuse","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health UCL and NIHR Biomedical Research Centre London UK"}]},{"given":"Elizabeth","family":"Vroom","sequence":"additional","affiliation":[{"name":"World Duchenne Organization Veenendaal Netherlands"}]},{"given":"Erik H.","family":"Niks","sequence":"additional","affiliation":[{"name":"Leiden University Medical Center, Department of Neurology Leiden Netherlands"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet University of Copenhagen Copenhagen Denmark"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Imagine Institute of Genetic Diseases Necker–Enfants Malades Hospital Paris France"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne UK"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health UCL and NIHR Biomedical Research Centre London UK"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Catholic University Rome Italy"},{"name":"Centro Clinico Nemo Fondazione Policlinico Gemelli IRCCS Rome Italy"}]},{"given":"Jos G. M.","family":"Hendriksen","sequence":"additional","affiliation":[{"name":"Kempenhaeghe Centre for Neurological Learning Disabilities Heeze Netherlands"},{"name":"Maastricht University, School for Mental Health and Neuroscience Maastricht Netherlands"}]},{"given":null,"family":null,"sequence":"additional","affiliation":[]}],"funder":[{"id":[{"id":"10.13039/100005693","id-type":"DOI","asserted-by":"publisher"}],"DOI":"10.13039/100005693","name":"Parent Project Muscular Dystrophy","award":["24MG‐PG12"],"award-info":[{"award-number":["24MG‐PG12"]}],"doi-asserted-by":"publisher"},{"id":[{"id":"10.13039/501100007423","id-type":"DOI","asserted-by":"publisher"}],"DOI":"10.13039/501100007423","name":"Duchenne Parent Project","award":["24.003"],"award-info":[{"award-number":["24.003"]}],"doi-asserted-by":"publisher"},{"id":[{"id":"10.13039/501100007423","id-type":"DOI","asserted-by":"publisher"}],"DOI":"10.13039/501100007423","name":"Duchenne Parent Project","award":["DUK‐2024‐06"],"award-info":[{"award-number":["DUK‐2024‐06"]}],"doi-asserted-by":"publisher"},{"id":[{"id":"10.13039/501100000780","id-type":"DOI","asserted-by":"publisher"}],"DOI":"10.13039/501100000780","name":"European 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