The second RECENSUS manuscript entitled ‘Mortality and Respiratory Support in X-linked Myotubular Myopathy: A RECENSUS Retrospective Analysis’ was recently accepted by the journal Archives of Disease in Childhood and the full text published online as an open access article. Below Kimberly Trant, Senior Director of Patient Advocacy and Engagement at Audentes Therapeutics writes about the study.
RECENSUS is one of the largest natural history studies of patients with XLMTM. This means that, with approval from patients and their families, researchers have collected medical records on 145 patients and reviewed them as a group to help understand their symptoms, their medical treatment, and the course of their disease.
From prior studies, we know that nearly half of children with XLMTM do not survive past 18 months due to respiratory failure, and those who survive typically require respiratory and feeding support, and never sit without support or walk on their own. To ensure that patients get the best care possible, it is important that they obtain a timely diagnosis. This can be more difficult in rare diseases, like XLMTM. Data from studies like RECENSUS help medical professionals recognize the signs and symptoms, request the appropriate diagnostic tests, and then provide patients with the best options possible.
The first analysis from RECENSUS (Beggs and colleagues, 2017) looked at patients’ burden of disease and their medical treatment. Here’s what we learned.
- The average age at diagnosis was at three years old (36 months), which is decreasing over time.
- Nearly all (90%) XLMTM patients required respiratory support at birth.
- 60% of patients had a tracheostomy.
- 48% of patients were dependent on ventilator support 24 hours per day.
- In their first year of life, affected children had an average of 3.7 surgeries and spent 35% of the year in the hospital.
- A substantial number of mothers reported signs of XLMTM during pregnancy, including decreased fetal movement (53%), polyhydramnios (excess amniotic fluid; 52%), and premature birth (31%).
The second analysis from RECENSUS (Graham and colleagues, 2019) looked at how respiratory support relates to survival, especially for younger patients. Here’s what we learned.
- The most common cause of death was respiratory failure (67%), despite nearly all patients having respiratory support from birth.
- Patients with a tracheostomy lived much longer than those without a tracheostomy (22.8 years vs 1.8 years) on average.
- By six months old, only 50% of patients were living without a tracheostomy; by two years old, this number fell to 28%.
Audentes Therapeutics sponsors and runs the RECENSUS study. Audentes thanks the patients and families with XLMTM who allowed their data to be collected for the RECENSUS study. We are also grateful for support from the XLMTM patient advocacy community: The Joshua Frase Foundation; MTM-CNM Family Connection; the Myotubular Trust; Where There’s a Will There’s A Cure Foundation for Myotubular Myopathy; and ZNM – Zusammen Stark!
- NCT02231697 – A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (RECENSUS). Available at https://clinicaltrials.gov/ct2/show/NCT02231697. Accessed October 14, 2019.
- BeggsAH, Byrne BJ, De Chastonay S, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: the recensus study. Muscle Nerve. 2018;57:550. Available at https://doi.org/10.1002/mus.26018. Accessed October 14, 2019.
- GrahamRJ, Muntoni F, Hughes I, et al. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis Archives of Disease in Childhood. Sep 4 [Epub ahead of print]. Available at http://dx.doi.org/10.1136/archdischild-2019-317910. Accessed October 14, 2019.