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Published on: June 14, 2024
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
Robert J Graham1, Francesco Muntoni2, Imelda Hughes3
1Department of Anesthesiology, Critical Care and Pain Medicine, Division of Critical Care Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA beggs@enders.tch.harvard.edu robert.graham@childrens.harvard.edu.
Insights
X-linked myotubular myopathy (XLMTM) patients under 5 years old have high mortality, mainly from respiratory failure, even with respiratory support. This highlights the need for early diagnosis and new treatments.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- X-linked myotubular myopathy (XLMTM) is a severe congenital condition requiring extensive supportive care.
- Infants with XLMTM face significant mortality, with half dying before 18 months.
Purpose of the Study:
- To investigate respiratory support and mortality risks in XLMTM patients, focusing on those ≤5 years old receiving respiratory support at birth.
- To provide data relevant to gene therapy trials for XLMTM.
Main Methods:
- Retrospective analysis of 145 XLMTM patients in the international RECENSUS study.
- Examined survival based on age, respiratory support, tracheostomy, and life-sustaining care using descriptive and time-to-event analyses.
Main Results:
- Among 126 patients with respiratory support at birth, 59% of those ≤5 years old died.
- Median survival was significantly shorter for patients ≤5 years old (2.2 years) compared to older patients (30.2 years).
- Respiratory failure was the primary cause of death (66.7%); tracheostomy and life-sustaining care were associated with longer survival.
Conclusions:
- High mortality in young XLMTM patients, despite respiratory support, emphasizes the critical need for early diagnosis.
- The findings underscore the importance of informed decision-making and the development of disease-modifying therapies for XLMTM.
Purpose:
Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. We explored respiratory support and associated mortality risk in RECENSUS, particularly among patients ≤5 years old who received respiratory support at birth; this subgroup closely matches patients in the ASPIRO trial of gene therapy for XLMTM.
Design:
RECENSUS is an international, retrospective study of patients with XLMTM. Descriptive and time-to-event analyses examined survival on the basis of age, respiratory support, tracheostomy use, predicted mutational effects and life-sustaining care.
Results:
Outcomes for 145 patients were evaluated. Among 126 patients with respiratory support at birth, mortality was 47% overall and 59% among those ≤5 years old. Median survival time was shorter for patients ≤5 years old than for those >5 years old (2.2 years (IQR 0.7-5.6) vs 30.2 years (IQR 19.4-30.2)). The most common cause of death was respiratory failure (66.7%). Median survival time was longer for patients with a tracheostomy than for those without (22.8 years (IQR 8.7-30.2) vs 1.8 years (IQR 0.2-not estimable)). The proportion of patients living without a tracheostomy was 50% at age 6 months and 28% at age 2 years. Median survival time was longer with provision of life-sustaining care than without (19.4 years (IQR 3.1-not estimable) vs 0.2 years (IQR 0.1-2.1)).
Conclusions:
High mortality, principally due to respiratory failure, among patients with XLMTM ≤5 years old despite respiratory support underscores the need for early diagnosis, informed decision-making and disease-modifying therapies.
Trial Registration Number:
NCT02231697.
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