| Study/Trial | Year & publication date | Type | Population/model | Intervention/exposure | Key quantitative findings | Status (if trial) | URL | Key citations |
|---|---|---|---|---|---|---|---|---|
| Graham et al. US claims analysis | 2023; Jun 2023 | Real-world claims | 192 males with XLMTM in US claims datasets | Healthcare utilization in routine care; ICD-10 code G71.220 introduced Oct 2020 | Annual patients with claims increased 120→154 (2016–2020); mean claims/patient/year 93→134; among 146 with hospitalization claims, 55% first hospitalized at age 0–4 years; hospitalization frequency: 31% had 1–2, 32% had 3–9, 14% had ≥10 hospitalizations; common burdens: respiratory events 82%, ventilation management 82%, feeding difficulties 81%, feeding support 72%, gastrostomy 69%, tracheostomy 64%; 96% of those with respiratory events had chronic respiratory claims | N/A | https://doi.org/10.1186/s13023-023-02733-2 | (pqac-00000009, pqac-00000010, pqac-00000011, pqac-00000012, pqac-00000041) |
| Souza et al. Brazil claims analysis | 2024; May 2024 | Real-world claims | 173 patients with suspected XLMTM in Brazilian public healthcare system (DATASUS) | Administrative claims-based identification of suspected XLMTM | 39% were <5 years at index; 96% diagnosed by muscle biopsy, only 1 patient by genetic test; nearly 50% hospitalized at some point; ~25% required mobility support; respiratory support 3% and feeding support 12%, suggesting 5–21 severe cases; >85% of patients <5 years had physiotherapy at index | N/A | https://doi.org/10.1186/s13023-024-03144-7 | (pqac-00000000) |
| Graham et al. ASPIRO ventilation weaning paper | 2024; Sep 2024 | Clinical trial follow-up / practice algorithm | Boys with XLMTM in ASPIRO gene therapy trial | Ventilator weaning after resamirigene bilparvovec response | 80% of children with XLMTM have profound weakness/hypotonia at birth; 85–90% require mechanical ventilation at birth; in INCEPTUS baseline ventilator dependence averaged 21.4 h/day and remained ~21.7 h/day over median 13 months; in ASPIRO, 16/24 dosed participants achieved ventilator independence between 14–97 weeks after dosing | Published post-trial management paper; ASPIRO no longer screening/enrolling/dosing | https://doi.org/10.1186/s12931-024-02966-0 | (pqac-00000002) |
| ASPIRO (NCT03199469) | 2017 record; active record accessed in 2025 | Interventional clinical trial | Pediatric males <5 years with genetically confirmed XLMTM; ventilator-dependent | Single IV resamirigene bilparvovec (AT132), AAV8-MTM1 gene therapy; low dose 1.3×10^14 vg/kg and high dose 3.5×10^14 vg/kg | Primary endpoint: change from baseline in hours of ventilation support at Week 24; secondary outcomes included CHOP-INTEND, MIP, ventilator independence, survival, QoL, myotubularin expression; safety concerns prominent, with severe complications/fatalities reported and dosing stopped | ACTIVE_NOT_RECRUITING; dosing/administration stopped for safety | https://clinicaltrials.gov/study/NCT03199469 | (pqac-00000031, pqac-00000032, pqac-00000033) |
| DYN101 (NCT04033159) | 2020 record; terminated by 2022 | Interventional clinical trial | Patients ≥16 years with CNM due to DNM2 or MTM1 mutations | IV constrained ethyl gapmer antisense oligonucleotide targeting DNM2 RNA | Planned SAD + MAD + extension; dose cohorts 1.5, 4.5, 9 mg/kg; enrollment 14; primary outcome was drug-related TEAEs with PK/PD/preliminary efficacy secondary measures; terminated because tolerability at low dose prevented continuation/escalation | TERMINATED | https://clinicaltrials.gov/study/NCT04033159 | (pqac-00000030) |
| TAM4MTM (NCT04915846) | 2020 record; terminated | Interventional clinical trial | Males with XLMTM; minimum age 6 months; small enrolled cohort | Oral tamoxifen citrate (ApoTamox) 10 mg twice daily for ~6 months in randomized, double-blind, placebo-controlled crossover design | Actual enrollment 6; primary motor endpoints included MFM32, CHOP-INTEND, and 10-meter walk test; secondary endpoints included FEV1, FVC, cough flow, MEP/MIP, time off invasive ventilation, CTCAE adverse events, and miR133a biomarker; trial terminated for safety concerns | TERMINATED | https://clinicaltrials.gov/study/NCT04915846 | (pqac-00000034, pqac-00000035) |
| MTM & CNM Patient Registry (NCT04064307) | 2013 registry start; recruiting in 2025 | Observational registry | International patient-reported registry for MTM/CNM; estimated enrollment 500 | Online registry data collection on diagnosis, genotype, motor/respiratory/cardiac/feeding status, surgery, family history, reports upload | Primary outcome is patient questionnaire over 12 months; captures motor function, wheelchair use, ventilation type, chest infections, feeding, heart function, neuromuscular examination, scoliosis surgery, genetic and biopsy reports | RECRUITING | https://clinicaltrials.gov/study/NCT04064307 | (pqac-00000036) |
| ASP2957 gene therapy study (NCT07052929) | 2025 record | Interventional clinical trial | Male ventilator-dependent children with XLMTM; estimated enrollment 9 | Single IV ASP2957 (MyoAAV3.8-MHCK7-hMTM1) with immunosuppression prophylaxis (methylprednisolone, prednisolone, sirolimus) | Phase 1/2 open-label dose-escalation/expansion; primary endpoints are TEAEs and adverse events of special interest through 52 weeks; secondary endpoints include change in ventilation hours/day at Week 52, vector DNA biodistribution, and anti-capsid/anti-myotubularin antibodies | RECRUITING | https://clinicaltrials.gov/study/NCT07052929 | (pqac-00000037, pqac-00000038, pqac-00000040) |
| EXCEL liver health study (NCT06581146) | 2025 record | Observational study | ~50 boys <18 years with genetically confirmed MTM1 mutations requiring some ventilatory support | Prospective hepatobiliary/liver surveillance in XLMTM; no investigational drug | Follow-up ~48 weeks with assessments about every 6 weeks; primary endpoints are cholestasis incidence over 48 weeks, baseline point prevalence, and 1-year prevalence; secondary outcomes include MTM1 variant associations and environmental/medication/immunization/infectious/dietary modifiers plus healthcare use | RECRUITING | https://clinicaltrials.gov/study/NCT06581146 | (pqac-00000039) |
| Karolczak et al. JCI zebrafish mtm1 liver study | 2023; Sep 2023 | Preclinical | Zebrafish mtm1 loss-of-function model of XLMTM liver disease | MTM1 loss; hepatocyte-specific rescue; targeted chemical screen including Dynasore/Dyngo-4a | 93% of WT vs 28% of mtm larvae showed gallbladder BODIPY transit; 66% of mtm larvae had severe steatosis; hepatocyte-specific Mtm1 reexpression improved bile flux (WT−GFP 88%, WT+GFP 96%, mtm−GFP 30%, mtm+GFP 65%); Dynasore improved bile flux (30.6% vs 3.67% DMSO, P=0.019) and partially restored canalicular structure/transporter localization | N/A | https://doi.org/10.1172/JCI166275 | (pqac-00000023, pqac-00000024, pqac-00000025, pqac-00000027, pqac-00000029) |
| Neves et al. Dnm2R369W/+ AAV-shDnm2 study | 2023; Sep 2023 | Preclinical | CRISPR knock-in Dnm2R369W/+ mouse model of moderate DNM2-CNM | Intramuscular AAV9-shDnm2 to normalize DNM2 levels | DNM2 protein increased ~50% in mutant muscle; shDnm2 reduced pan-Dnm2 mRNA by 25–27% and DNM2 protein by 38% in mutant mice, normalizing expression; improved muscle/body-weight ratio, fiber diameter, SDH abnormalities (14%→10.3%), mitochondrial/triad ultrastructure, and absolute/specific TA force | N/A | https://doi.org/10.1016/j.omtn.2023.07.003 | (pqac-00000013, pqac-00000014, pqac-00000015, pqac-00000016) |
| Simon et al. multi-organ RNA-seq in Mtm1-/y | 2024; Dec 2024 | Preclinical | Mtm1−/y mouse; skeletal muscles, heart, liver | Multi-organ transcriptomics and functional phenotyping in XLMTM model | Skeletal muscle disease signature implicated dysregulated muscle development, inflammation, cell adhesion, and oxidative phosphorylation; heart showed only mild functional changes; PtdIns3P and DNM2 increased in skeletal but not cardiac muscle, supporting tissue-specific compensation; paper notes >50% of patients die by age 2 years | N/A | https://doi.org/10.1007/s00018-024-05512-9 | (pqac-00000001) |


*Table: This table summarizes major 2023-2025 real-world studies, preclinical investigations, and clinical trials relevant to centronuclear myopathy, with an emphasis on X-linked myotubular myopathy. It is useful for quickly comparing populations, interventions, key quantitative findings, and current trial status across the recent evidence base.*