Healthcare Industry News: Pompe disease
News Release - November 21, 2017
Audentes Therapeutics Announces Publication of Data from RECENSUS, a Retrospective Medical Record Review of Patients With X-Linked Myotubular MyopathySAN FRANCISCO, Nov. 21, 2017 -- (Healthcare Sales & Marketing Network) -- Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases, today 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.
"RECENSUS has established one of the largest data sets of genetically-confirmed XLMTM in the world, and this analysis makes a vital contribution to our understanding of this disease," stated Dr. 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. "The RECENSUS study more completely defines the disease burden and management of XLMTM, and demonstrates the devastating impact that an XLMTM diagnosis has on the lives of patients and their families."
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.
About AT132 for X-Linked Myotubular Myopathy
AT132 is the Audentes product candidate being developed to treat XLMTM, a rare monogenic disease characterized by extreme muscle weakness, respiratory failure and early death, with an estimated 50% mortality rate by 18 months of age. XLMTM is caused by mutations in the MTM1 gene, which encodes a protein called myotubularin. Myotubularin plays an important role in the development, maintenance and function of skeletal muscle cells. AT132 is comprised of an AAV8 vector containing a functional copy of the MTM1 gene. Multiple studies in animal models of XLMTM have demonstrated that a single administration of AT132 improved disease symptoms and survival rates, with no significant AT132-related adverse events or safety findings. In one study these effects have lasted approximately 5 years to date. Audentes is developing AT132 in collaboration with Genethon (www.genethon.fr).
About Audentes Therapeutics, Inc.
Audentes Therapeutics (Nasdaq: BOLD) is a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases. We are currently conducting a Phase 1/2 clinical study of our lead product candidate AT132 for the treatment of X-Linked Myotubular Myopathy (XLMTM) and have three additional product candidates in development, including AT342 for the treatment of Crigler-Najjar Syndrome, AT982 for the treatment of Pompe disease, and AT307 for the treatment of the CASQ2 subtype of Catecholaminergic Polymorphic Ventricular Tachycardia (CASQ2-CPVT). We are a focused, experienced and passionate team committed to forging strong, global relationships with the patient, research and medical communities.
For more information regarding Audentes, please visit www.audentestx.com.
Forward Looking Statements
This press release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to: the timing of preliminary data from ASPIRO and the potential of INCEPTUS to serve as a longitudinal baseline and within patient control for ASPIRO. All statements other than statements of historical fact are statements that could be deemed forward-looking statements. Although the company believes that the expectations reflected in such forward-looking statements are reasonable, the company cannot guarantee future events, results, actions, levels of activity, performance or achievements, and the timing and results of biotechnology development and potential regulatory approval is inherently uncertain. Forward-looking statements are subject to risks and uncertainties that may cause the company's actual activities or results to differ significantly from those expressed in any forward-looking statement, including risks and uncertainties related to the company's ability to advance its product candidates, obtain regulatory approval of and ultimately commercial its product candidates, the timing and results of preclinical and clinical trials, the company's ability to fund development activities and achieve development goals, the company's ability to protect intellectual property and other risks and uncertainties described under the heading "Risk Factors" in documents the company files from time to time with the Securities and Exchange Commission. These forward-looking statements speak only as of the date of this press release, and the company undertakes no obligation to revise or update any forward-looking statements to reflect events or circumstances after the date hereof.
Source: Audentes Therapeutics
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