Sequenom Announces Launch of RNA-Based Noninvasive Aneuploidy (RNA) Study
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Sequenom, Inc announced the launch of an independent, prospective,
multi-center observational study to document the performance of
Sequenom's SEQureDx(TM) Trisomy 21 technology for Down syndrome based
upon Sequenom's SEQureDx Technology.
The study, RNA-based Noninvasive Aneuploidy (RNA), will be directed by Jacob Canick, Ph.D., Professor of Pathology and Laboratory Medicine, Brown University Medical School, and Glenn Palomaki, Associate Director, Division of Medical Screening, Women & Infants Hospital at Alpert Medical School of Brown University in Providence, Rhode Island.
The 16-month RNA Study will evaluate the SEQureDx T21 technology performance by obtaining blood samples from up to 10,000 pregnant women in high prevalence pregnancies late in the first trimester to be confirmed by chorionic villus sampling (CVS) or early second trimester to be confirmed by amniocentesis. The study will include 30 worldwide clinical sites and three independent laboratory sites. The study, which is expected to be completed post-launch of the SEQureDx Trisomy 21 test, is aimed at producing sufficient data for submission to a peer-reviewed journal for publication.
Both Dr. Canick and Mr. Palomaki have participated in many large-scale clinical trials involving prenatal screening. Among these was the groundbreaking First and Second Trimester Evaluation of Risk (FASTER) trial that confirmed the validity of the use of a first semester ultrasound determination of nuchal translucency combined with two serum markers as an alternative to the traditional second-semester maternal serum screening for Down syndrome. Dr. Canick and Mr. Palomaki will head the coordinating center at Women and Infants Hospital, which will have the complete responsibility for the direction of the study, choice of recruitment sites, management of the samples, analysis of the data and the publication of the findings.
"We are pleased to sponsor this important, potentially paradigm-shifting study directed by two highly respected investigators and led by Women & Infants Hospital. We believe obstetricians and gynecologists will be important potential customers for our SEQureDx T21 technology, and as such, one of our key objectives for this study is to obtain sufficient data to submit the results to a well recognized, peer-reviewed journal for publication," stated Harry Stylli, Ph.D., President and Chief Executive Officer of Sequenom.
"In addition, upon acquisition of the CLIA-certified laboratory Center of Molecular Medicine, we plan to conduct a validation study that will analyze up to 5,000 samples to further validate the sensitivity of our test. This study should be completed by June 2009 and will allow our CLIA lab to offer our laboratory developed test in compliance with all testing regulations. We believe the combination of these two studies should support early as well as broad, long-term adoption of our SEQureDx T21 test."
Dr. Canick said, "The SEQureDx T21 methodology we will be using in this study, including collection, shipping and testing of the samples, will represent, as closely as possible, a methodology that can be offered as a routine clinical test in multiple laboratories. The ability to perform a validated test for Down syndrome that can be done in the first or second trimester of pregnancy that is highly sensitive and can prevent the unnecessary administration of invasive
amniocentesis or CVS tests may provide a potentially practice changing
approach to prenatal screening."
The study's primary goal is to document the performance (clinical sensitivity and false-positive rate) of Sequenom's T21 technology that uses fetal RNA in maternal plasma to identify Down syndrome in early pregnancy. The study has a secondary goal of developing a bank of samples to aid in improving SEQureDx T21 detectability in the identification of other chromosomal abnormalities.
Current screening technology for Down syndrome includes serum marker analysis, such as the quad screen and first trimester combined screening that combines serum marker testing with nuchal translucency. These approaches have detection or sensitivity rates of 80% and 85% to 87%, respectively, which means that between 13% and 20% of all Down syndrome-affected pregnancies will not be identified as needing further evaluation. In addition, these approaches also have false positive rates of between 5% to 10%, resulting in hundreds of
unnecessary, highly invasive CVS or amniocentesis procedures.
These invasive procedures, which are used to determine whether the fetus has
Down syndrome, carry a risk of miscarriage in the range of one-in-100 to one-in-300.
multi-center observational study to document the performance of
Sequenom's SEQureDx(TM) Trisomy 21 technology for Down syndrome based
upon Sequenom's SEQureDx Technology.
The study, RNA-based Noninvasive Aneuploidy (RNA), will be directed by Jacob Canick, Ph.D., Professor of Pathology and Laboratory Medicine, Brown University Medical School, and Glenn Palomaki, Associate Director, Division of Medical Screening, Women & Infants Hospital at Alpert Medical School of Brown University in Providence, Rhode Island.
The 16-month RNA Study will evaluate the SEQureDx T21 technology performance by obtaining blood samples from up to 10,000 pregnant women in high prevalence pregnancies late in the first trimester to be confirmed by chorionic villus sampling (CVS) or early second trimester to be confirmed by amniocentesis. The study will include 30 worldwide clinical sites and three independent laboratory sites. The study, which is expected to be completed post-launch of the SEQureDx Trisomy 21 test, is aimed at producing sufficient data for submission to a peer-reviewed journal for publication.
Both Dr. Canick and Mr. Palomaki have participated in many large-scale clinical trials involving prenatal screening. Among these was the groundbreaking First and Second Trimester Evaluation of Risk (FASTER) trial that confirmed the validity of the use of a first semester ultrasound determination of nuchal translucency combined with two serum markers as an alternative to the traditional second-semester maternal serum screening for Down syndrome. Dr. Canick and Mr. Palomaki will head the coordinating center at Women and Infants Hospital, which will have the complete responsibility for the direction of the study, choice of recruitment sites, management of the samples, analysis of the data and the publication of the findings.
"We are pleased to sponsor this important, potentially paradigm-shifting study directed by two highly respected investigators and led by Women & Infants Hospital. We believe obstetricians and gynecologists will be important potential customers for our SEQureDx T21 technology, and as such, one of our key objectives for this study is to obtain sufficient data to submit the results to a well recognized, peer-reviewed journal for publication," stated Harry Stylli, Ph.D., President and Chief Executive Officer of Sequenom.
"In addition, upon acquisition of the CLIA-certified laboratory Center of Molecular Medicine, we plan to conduct a validation study that will analyze up to 5,000 samples to further validate the sensitivity of our test. This study should be completed by June 2009 and will allow our CLIA lab to offer our laboratory developed test in compliance with all testing regulations. We believe the combination of these two studies should support early as well as broad, long-term adoption of our SEQureDx T21 test."
Dr. Canick said, "The SEQureDx T21 methodology we will be using in this study, including collection, shipping and testing of the samples, will represent, as closely as possible, a methodology that can be offered as a routine clinical test in multiple laboratories. The ability to perform a validated test for Down syndrome that can be done in the first or second trimester of pregnancy that is highly sensitive and can prevent the unnecessary administration of invasive
amniocentesis or CVS tests may provide a potentially practice changing
approach to prenatal screening."
The study's primary goal is to document the performance (clinical sensitivity and false-positive rate) of Sequenom's T21 technology that uses fetal RNA in maternal plasma to identify Down syndrome in early pregnancy. The study has a secondary goal of developing a bank of samples to aid in improving SEQureDx T21 detectability in the identification of other chromosomal abnormalities.
Current screening technology for Down syndrome includes serum marker analysis, such as the quad screen and first trimester combined screening that combines serum marker testing with nuchal translucency. These approaches have detection or sensitivity rates of 80% and 85% to 87%, respectively, which means that between 13% and 20% of all Down syndrome-affected pregnancies will not be identified as needing further evaluation. In addition, these approaches also have false positive rates of between 5% to 10%, resulting in hundreds of
unnecessary, highly invasive CVS or amniocentesis procedures.
These invasive procedures, which are used to determine whether the fetus has
Down syndrome, carry a risk of miscarriage in the range of one-in-100 to one-in-300.
