{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T22:30:31Z","timestamp":1786746631518,"version":"build-2736575974"},"reference-count":42,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Dynacure","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      X-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM) are rare neuromuscular disorders characterized by severe weakness and respiratory impairment and have recently been the focus of therapeutic development. Robust baseline data are essential to understand disease trajectories and enable trial readiness. We present baseline clinical, functional, and biomarker findings from the terminated Unite-CNM trial (NCT04033159), a basket study of the antisense oligonucleotide DYN101, designed to modulate\n                      <jats:italic toggle=\"yes\">DNM2<\/jats:italic>\n                      expression in adolescents and adults with XLMTM or ADCNM.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Screening and baseline evaluations included medical history, patient-reported outcomes, quantitative muscle strength and motor function, respiratory testing, muscle ultrasound and histology, and biomarker analyses (DNM2 protein, creatinine, creatine kinase, cystatin C, myostatin, and microRNAs) in plasma and muscle.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty-six patients were screened (15\n                      <jats:italic toggle=\"yes\">DNM2<\/jats:italic>\n                      , 11\n                      <jats:italic toggle=\"yes\">MTM1<\/jats:italic>\n                      ); 14 entered the study. Patient-reported measures highlighted swallowing challenges and variable personal goals. Baseline respiratory impairment was variable in\n                      <jats:italic toggle=\"yes\">DNM2<\/jats:italic>\n                      and female\n                      <jats:italic toggle=\"yes\">MTM1<\/jats:italic>\n                      patients but consistently reduced in males with\n                      <jats:italic toggle=\"yes\">MTM1<\/jats:italic>\n                      (FVC% and FEV1% stable over follow-up to 78 weeks). MFM32 scores were similar across genotypes and sexes, while Myogrip strength was reduced versus age norms yet stable longitudinally. Muscle pathology was comparable across groups. Biomarker analyses showed altered DNM2 protein, reduced myostatin, and specific abnormalities in creatinine, creatine kinase, cystatin C, and microRNAs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This dataset provides valuable phenotypic, functional, and biomarker characterization of adult XLMTM and ADCNM, emphasizes the importance of baseline data for ultrarare disease trials, and highlights the need for protocol flexibility in response to safety signals and disruptions (e.g. COVID-19).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602261471202","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T21:44:06Z","timestamp":1786743846000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study"],"prefix":"10.1177","author":[{"given":"Olga","family":"Prikhodko","sequence":"first","affiliation":[{"name":"Ionis Pharmaceuticals"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana A.","family":"Vetter","sequence":"additional","affiliation":[{"name":"Diverge Translational Science Laboratory"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Colombo","sequence":"additional","affiliation":[{"name":"Dynacure SA (now Flamingo Therapeutics NV)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Freitag","sequence":"additional","affiliation":[{"name":"Dynacure SA (now Flamingo Therapeutics NV)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Nijkamp","sequence":"additional","affiliation":[{"name":"Dynacure SA (now Flamingo Therapeutics NV)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Eyler","sequence":"additional","affiliation":[{"name":"Dynacure SA (now Flamingo Therapeutics NV)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leen","family":"Thielemans","sequence":"additional","affiliation":[{"name":"Dynacure SA (now Flamingo Therapeutics NV)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[{"name":"University of Antwerp"},{"name":"University of Antwerp"},{"name":"Antwerp University Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"Stemmerik","sequence":"additional","affiliation":[{"name":"University of Copenhagen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"University of Copenhagen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ros","family":"Quinlivan","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Guglieri","sequence":"additional","affiliation":[{"name":"Newcastle University and Newcastle Hospitals NHS Foundation Trust"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Montagnese","sequence":"additional","affiliation":[{"name":"Ludwig Maximilian University (LMU)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Ludwig Maximilian University (LMU)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3601-2746","authenticated-orcid":false,"given":"Frederik","family":"Braun","sequence":"additional","affiliation":[{"name":"University Duisburg-Essen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[{"name":"University Duisburg-Essen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris E.","family":"Leeuwenberg","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nens","family":"van Alfen","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael W.","family":"Lawlor","sequence":"additional","affiliation":[{"name":"Diverge Translational Science Laboratory"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda S","family":"Cowling","sequence":"additional","affiliation":[{"name":"Ionis Pharmaceuticals"},{"name":"Dynacure SA (now Flamingo Therapeutics NV)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5837-7295","authenticated-orcid":false,"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,14]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.08.003"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.06.012"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.02.004"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1748-0"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000513"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222111377"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200027"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad251"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90542"},{"key":"e_1_3_5_11_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.137899"},{"key":"e_1_3_5_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1808170115"},{"key":"e_1_3_5_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15661"},{"key":"e_1_3_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2021.08.006"},{"key":"e_1_3_5_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-01048-8"},{"key":"e_1_3_5_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004415"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26018"},{"key":"e_1_3_5_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007319"},{"key":"e_1_3_5_19_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-210781"},{"key":"e_1_3_5_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(23)00313-7"},{"key":"e_1_3_5_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2023.104894"},{"key":"e_1_3_5_22_2","first-page":"221436022513292","article-title":"Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study","volume":"12","author":"Colombo S","year":"2025","unstructured":"Colombo S, Cowling BS, Eyler L, et al. Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study. J Neuromuscul Dis 2025; 12: 22143602251329215. https:\/\/doi.org\/10.1177\/22143602251329215","journal-title":"J Neuromuscul Dis"},{"key":"e_1_3_5_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2017.02.004"},{"key":"e_1_3_5_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2022.02.009"},{"key":"e_1_3_5_25_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71206"},{"key":"e_1_3_5_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/387083a0"},{"key":"e_1_3_5_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2020.04.022"},{"issue":"17","key":"e_1_3_5_28_2","first-page":"3197","article-title":"The miR-199-dynamin regulatory axis controls receptor-mediated endocytosis","volume":"128","author":"Aranda JF","year":"2015","unstructured":"Aranda JF, Canfran-Duque A, Goedeke L, et al. The miR-199-dynamin regulatory axis controls receptor-mediated endocytosis. J Cell Sci 2015; 128(17): 3197\u20133209. https:\/\/doi.org\/10.1242\/jcs.165233","journal-title":"J Cell Sci"},{"key":"e_1_3_5_29_2","doi-asserted-by":"publisher","DOI":"10.1186\/1756-0500-3-297"},{"key":"e_1_3_5_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1810"},{"key":"e_1_3_5_31_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012236"},{"key":"e_1_3_5_32_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000201084"},{"key":"e_1_3_5_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15496"},{"key":"e_1_3_5_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.01.003"},{"key":"e_1_3_5_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.07.218"},{"key":"e_1_3_5_36_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000171653.17213.2e"},{"key":"e_1_3_5_37_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2022-063061"},{"key":"e_1_3_5_38_2","doi-asserted-by":"publisher","DOI":"10.1002\/jrsm.1703"},{"key":"e_1_3_5_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2024.03.008"},{"key":"e_1_3_5_40_2","first-page":"51586","article-title":"Tissue triage and freezing for models of skeletal muscle disease","volume":"89","author":"Meng H","year":"2014","unstructured":"Meng H, Janssen PM, Grange RW, et al. Tissue triage and freezing for models of skeletal muscle disease. Journal of visualized experiments : JoVE 2014; 89: 51586. https:\/\/doi.org\/10.3791\/51586","journal-title":"Journal of visualized experiments : JoVE"},{"key":"e_1_3_5_41_2","volume-title":"Muscle Biopsy: A Practical Approach","author":"Victor Dubowitz CASaAO","year":"2013","unstructured":"Victor Dubowitz CASaAO. Muscle Biopsy: A Practical Approach. Elsevier, 2013."},{"key":"e_1_3_5_42_2","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2014-0453-OA"},{"key":"e_1_3_5_43_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2002-3-7-research0034"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602261471202","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602261471202","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602261471202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T21:44:07Z","timestamp":1786743847000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602261471202"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,14]]},"references-count":42,"alternative-id":["10.1177\/22143602261471202"],"URL":"https:\/\/doi.org\/10.1177\/22143602261471202","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,14]]},"article-number":"22143602261471202"}}