Date: 2017-03-20
Type of
information: Presentation of results at a congress
phase:
Announcement: presentation of results at the 2017 Muscular Dystrophy Association (MDA) Scientific Conference
Company: Audentes Therapeutics (USA - CA)
Product:
Action
mechanism:
Disease: X-linked Myotubular Myopathy (XLMTM)
Therapeutic
area: Rare diseases - Genetic diseases - Neuromuscular diseases
Country:
Trial
details:
Latest
news:
- • On March 20, 2017, Audentes Therapeutics announced that data from RECENSUS, a medical chart review of patients with X-linked Myotubular Myopathy (XLMTM), will be presented at the 2017 Muscular Dystrophy Association (MDA) Scientific Conference, which will be held in Arlington, Virginia from March 19 to 22, 2017. These data provide new insights into the significant medical burden for children with XLMTM, their families and caregivers.
- "A Multicenter, Retrospective Medical Record Review of Patients with X-Linked Myotubular Myopathy (XLMTM): The RECENSUS Study" will be presented by Alan Beggs, PhD, Director of The Manton Center for Orphan Disease Research at Boston Children's Hospital, Sir Edwin and Lady Manton Professor of Pediatrics at Harvard Medical School, and Principal Investigator of the RECENSUS study.
- 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:
- 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
- The majority of patients for whom data were available were receiving the most invasive forms of ventilatory support (67% - CPAP/BiPAP, and 64% - IPPV/SIMV/Pressure support)
- 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.
Is
general: Yes
