At the 2017 Muscular Dystrophy Scientific Conference in Virginia, US “A Multicenter, Retrospective Medical Record Review of Patients with X-Linked Myotubular Myopathy (XLMTM): The RECENSUS Study” (RECENSUS poster_MDA 2017_v4.2_final copy) was presented by Alan Beggs, PhD, of Boston Children’s Hospital, and Harvard Medical School.
This initial analysis of 112 male patients describes the substantial humanistic and economic burden on the lives of XLMTM children, their families and the healthcare system. Consistent with previous studies, RECENSUS data shows that XLMTM is a devastating, life-threatening disease manifesting early in the neonatal period with considerable, ongoing unmet medical need. Key observations include:
- Overall mortality was 44% (64% of patients ≤18 months of age; 32% of patients >18 months of age)
- In the first year of life, infants with XLMTM spent 35% of their time in the hospital and underwent an average of 3.7 surgeries
- At birth, 95% of the boys were hypotonic and 90% required respiratory support
- 48% of the boys required 24-hour ventilation and 60% had received a tracheostomy. Those patients that were not ventilated 24-hours per day still spent an average of 8.5 hours daily on a ventilator