|Audentes Therapeutics Announces Presentation Of Data From RECENSUS, A Medical Chart Review Of Patients With X-Linked Myotubular Myopathy (XLMTM)|
"A Multicenter, Retrospective Medical Record Review of Patients with X-Linked Myotubular Myopathy (XLMTM): The RECENSUS Study" will be presented by
This initial analysis of 112 male patients is the first publication to describe the substantial humanistic and economic burden on the lives of XLMTM children, their families and the healthcare system. Consistent with previous studies, RECENSUS data show that XLMTM is a devastating, life-threatening disease manifesting early in the neonatal period with considerable, ongoing unmet medical need. Key observations include:
The data also demonstrate that the time from presentation of symptoms to a confirmed diagnosis of XLMTM is declining, which likely represents an increasing physician awareness of XLMTM, coupled with improved diagnostic techniques. Since the discovery of the MTM1 gene in 1996, the mean age at diagnosis has dropped from 35.1 months in the period 1996-2000, to 4.4 months in the period 2011-2014.
"RECENSUS has established one of the largest data sets of XLMTM in the world, and this analysis makes a vital contribution to our understanding of this terrible disease," stated Dr.
While retrospective studies of observational data must be interpreted with caution, they are particularly important in the rare disease setting, where large populations of patients are not available for enrollment in prospective studies. Such studies are critical for exploring the signs, symptoms, management, and burden of rare diseases, and have previously been used to provide historical control populations for new therapies undergoing regulatory approval. In addition, data from the RECENSUS study provide important information to aid in selecting endpoints for interventional studies of XLMTM, including measures of survival, respiratory function, and burden of illness.
AT132 for X-Linked Mytubular Myopathy
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