{"doi":"10.3233/jnd-210665","title":"A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment","abstract":"BACKGROUND: Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over 4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable genetic mutations. Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compare long-term clinical outcomes of eteplirsen-treated patients from Studies 201/202/405 with those of external controls. METHODS: Median total follow-up time was approximately 6 years of eteplirsen treatment. Outcomes included loss of ambulation (LOA) and percent-predicted forced vital capacity (FVC%p). Time to LOA was compared between eteplirsen-treated patients and standard of care (SOC) external controls and was measured from eteplirsen initiation in 201/202 or, in the SOC group, from the first study visit. Comparisons were conducted using univariate Kaplan-Meier analyses and log-rank tests, and multivariate Cox proportional hazards models with regression adjustment for baseline characteristics. Annual change in FVC%p was compared between eteplirsen-treated patients and natural history study patients using linear mixed models with repeated measures. RESULTS: Data were included from all 12 patients in Studies 201/202 and the 10 patients with available data from 405. Median age at LOA was 15.16 years. Eteplirsen-treated patients experienced a statistically significant longer median time to LOA by 2.09 years (5.09 vs. 3.00 years, p < 0.01) and significantly attenuated rates of pulmonary decline vs. natural history patients (FVC%p change: -3.3 vs. -6.0 percentage points annually, p < 0.0001). CONCLUSIONS: Study 405 highlights the functional benefits of eteplirsen on ambulatory and pulmonary function outcomes up to 7 years of follow-up in comparison to external controls.","journal":"Journal of Neuromuscular Diseases","year":2021,"id":162007,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":52,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.958,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":679117,"name":"for the investigators from the LNMRC Natural History study","orcid":null,"position":1,"is_corresponding":false},{"id":679118,"name":"for the investigators from the CINRG Duchenne National History Study","orcid":null,"position":2,"is_corresponding":false},{"id":679119,"name":"for the investigators from The DMD Italian Group","orcid":null,"position":3,"is_corresponding":false},{"id":679120,"name":"Hoda Abdel‐Hamid","orcid":null,"position":4,"is_corresponding":false},{"id":275253,"name":"Barry J. Byrne","orcid":"0000-0002-7302-1756","position":5,"is_corresponding":false},{"id":627920,"name":"Anne M. Connolly","orcid":"0000-0002-9193-2457","position":6,"is_corresponding":false},{"id":460251,"name":"Peter Heydemann","orcid":null,"position":7,"is_corresponding":false},{"id":678143,"name":"Crystal M. Proud","orcid":"0009-0008-8416-9335","position":8,"is_corresponding":false},{"id":388994,"name":"Perry B. Shieh","orcid":"0000-0001-7145-7663","position":9,"is_corresponding":false},{"id":199083,"name":"Kathryn R. Wagner","orcid":null,"position":10,"is_corresponding":false},{"id":679121,"name":"A. Dugar","orcid":null,"position":11,"is_corresponding":false},{"id":679122,"name":"Sourav Santra","orcid":null,"position":12,"is_corresponding":false},{"id":260471,"name":"James Signorovitch","orcid":"0000-0002-4067-8962","position":13,"is_corresponding":false},{"id":344364,"name":"Nathalie Goemans","orcid":"0000-0002-5157-7155","position":14,"is_corresponding":false},{"id":295921,"name":"Craig M. McDonald","orcid":"0000-0002-8779-3220","position":15,"is_corresponding":false},{"id":297632,"name":"Eugenio Mercuri","orcid":"0000-0002-9851-5365","position":16,"is_corresponding":false},{"id":421570,"name":"Jerry R. Mendell","orcid":"0009-0006-3966-6303","position":17,"is_corresponding":false},{"id":67276,"name":"Olga Mitelman","orcid":null,"position":0,"is_corresponding":true}],"reference_count":47,"raw_metadata":null,"created_at":"2026-07-18T23:45:00.600065Z","pmid":"34420980","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}