SAN FRANCISCO, March 20, 2017 /PRNewswire/ -- 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 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.
"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. Alan Beggs. "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."
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
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 was well
tolerated and significantly improved disease symptoms and survival
rates. In one study these effects have lasted more than four
years to date.
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 have
four product candidates in development, AT132 for the treatment of
X-Linked Myotubular Myopathy (XLMTM), 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 interpretation of the data from
RECENSUS and whether it contributes to the overall understanding of
the burden of illness and burden of care of XLMTM, whether a study
such as RECENSUS can be used to establish a historical control for
AT132 as it seeks regulatory approval, and whether RECENSUS will be
valuable in establishing or interpreting endpoints in future
clinical trials of AT132. 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 pre-clinical 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.
Audentes Contacts:
Investor Contact:
Thomas Soloway, CFO
415.818.1040
ir@audentestx.com
Media Contact:
Jeffrey Gruis
415.818.1015
media@audentestx.com
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SOURCE Audentes Therapeutics, Inc.