Clinical Data launches genetic test for arrhythmogenic right
24 November 2008
PGxHealth, a division of Clinical Data, Inc. (NASDAQ: CLDA), has
launched a new genetic test for arrhythmogenic right ventricular
cardiomyopathy (ARVC), an inherited and often fatal heart condition.
Clinical Data also announced plans to make its databases of genetic
mutations associated with inherited cardiac conditions, such as ARVC,
available to the public.
“The launch of our FAMILION ARVC test illustrates the Company’s
ongoing commitment to extend our leadership position in cardiovascular
genetics by making additional tests more broadly available to
clinicians, patients and their family members,” said Drew Fromkin,
President and CEO of Clinical Data.
“We are also reiterating our commitment to the clinical and research
communities and advocacy groups by releasing our cardiac genetic
databases to the public in support of efforts to more fully understand
the genetic basis of these complex diseases.”
In 2006, Joint Guidelines released by the American College of
Cardiology, American Heart Association and the European Society of
Cardiology support the utilisation of genetic testing for patients and
their family members suspected of carrying mutations causative of ARVC.
The FAMILION ARVC Test is a complex genetic test that sequences the five
genes most commonly associated with ARVC.
“Because over 40% of ARVC patients suffer sudden cardiac death as
their first known manifestation of disease, making an early and accurate
diagnosis is critical to saving lives,” said Jeffrey Towbin, MD,
Professor, Baylor College of Medicine and Texas Children’s Hospital, one
of the world’s thought leaders on ARVC. “Comprehensive genetic screening
that includes all five ARVC causing genes is a critical tool in the
diagnosis and management of ARVC.”
In addition, PGxHealth intends to publish its FAMILION databases
beginning in the spring of 2009, as part of a large-scale database
project for inherited cardiac conditions. Initially, the publicly
accessible data will include information related to long QT syndrome
(LQTS) and Brugada syndrome (BrS), two inherited channelopathies.
“The publication of this large collection of genetic data from
approximately 2,500 LQTS and 200 BrS patients, and corresponding data
from a healthy reference population of almost 700 volunteers, will be an
unprecedented resource for the cardiac research and clinical
communities,” said Carol R. Reed, M.D., Chief Medical Officer of
“This data release is being carefully assembled in collaboration with
multiple academic thought leaders from around the world and will be made
available in an anonymous, publicly accessible database, which will be
regularly updated with new data from our testing.”
The exact prevalence of ARVC is not known; estimates range from 1 in
5,000 to 1 in 1,250 people.1,2 ARVC is an inherited progressive heart
disease with patients most commonly presenting in the second or third
decade of life. Symptoms associated with ARVC include syncope
(fainting), heart palpitations, dizziness and breathlessness. While
there is no cure for ARVC, once diagnosed and treated, patients have an
excellent prognosis. Treatment of confirmed ARVC usually includes
implanting a cardioverter defibrillator.
The FAMILION ARVC Test will help clinicians interpret borderline
clinical findings, confirm the clinical suspicion of ARVC, make
presymptomatic diagnoses, identify silent carriers and enable informed
The FAMILION ARVC Test sequences 5 genes (PKP2, DSP, DSG2, DSC2 and
TMEM43) and is performed in a CLIA-certified commercial laboratory that
meets all applicable state and federal guidelines.
The FAMILION tests detect genetic mutations that can cause cardiac
channelopathies, such as Long QT Syndrome (LQTS), Brugada Syndrome (BrS)
and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), or
cardiomyopathies such as Hypertrophic Cardiomyopathy (HCM) and
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in individuals
and their families.
By detecting genetic mutations, the FAMILION tests can be used to
recognize inherited forms of these syndromes, helping to guide treatment
and reduce the incidence of deadly cardiac events associated with them.
When a cardiac channelopathy or cardiomyopathy has been diagnosed,
the test can help doctors and patients make more informed treatment
decisions and aid in uncovering other family members that may be at
risk, even if asymptomatic.
For more information about the FAMILION family of genetic tests,
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