Date: 2017-11-21
Type of
information: Publication of results in a medical journal
phase:
Announcement: publication of results in Muscle & Nerve
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:
- This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies. (NCT02231697)
Latest
news:
- • On November 21, 2017, Audentes Therapeutics announced the publication of "A Multicenter, Retrospective Medical Record Review of X-Linked Myotubular Myopathy: The RECENSUS Study," in Muscle & Nerve. This publication from RECENSUS, a study sponsored by Audentes, expands upon the data first presented at the Muscular Dystrophy Association (MDA) Scientific Conference in March 2017, and reinforces the high mortality and significant disease burden experienced by children with XLMTM and their families.
- The results from 112 boys enrolled in RECENSUS form one of the largest peer-reviewed publications of data illustrating the substantial clinical, humanistic and economic burden of XLMTM. In this dataset, overall mortality was 44% (64% of patients ?18 months of age; 32% of patients >18 months of age). At birth, 95% of the boys were hypotonic and 90% required some form of respiratory support. After the immediate neonatal period, once patients have been stabilized, almost half (48%) required 24-hour ventilation, while the remaining boys averaged 8.5 hours per day on a ventilator. 60% of the boys in the study had undergone a tracheostomy. Critically, the data show that infants with XLMTM spend, on average, 35% of their first year of life in the hospital and undergo an average of 3.7 surgeries during that time.
- These data are consistent with previously published reports demonstrating that XLMTM is a devastating, life-threatening disorder that manifests early in the neonatal period and has considerable, ongoing unmet medical need. The data also illustrate that the time from presentation of symptoms to a confirmed diagnosis of XLMTM is declining (from a mean of 35.1 months in the period 1996-2000, to 4.4 months in the period 2011-2014). This is likely due to an increasing awareness of XLMTM coupled with improved diagnostic techniques, and may help with appropriate intervention and management of patients early in their lives.
- The RECENSUS study was the first step in the clinical development program for AT132, the Audentes product candidate in development for the treatment of XLMTM. Following RECENSUS, Audentes initiated INCEPTUS, a clinical assessment and Phase 1 / 2 run-in study, in July 2016. The primary objectives of INCEPTUS are to prospectively characterize the disease course and natural history of children with XLMTM and to assess the burden of disease on XLMTM patients and caregivers. INCEPTUS also serves to identify subjects for potential enrollment in ASPIRO, the Phase 1 / 2 clinical study of AT132, as well as act as a longitudinal baseline and within-patient control for ASPIRO. Preliminary data reported from INCEPTUS confirm the significant neuromuscular and respiratory deficits experienced by XLMTM patients, and provide insight into the relevance and sensitivity of assessments used in ASPIRO, a Phase 1 / 2 clinical study designed to assess the safety and preliminary efficacy of AT132. Audentes initiated ASPIRO in September 2017 and plans to report preliminary clinical data from the study in early January 2018.
Is
general: Yes
