By Julia Karow
This story was originally published on August 6.
Sequenom said last week that it has embarked on an internal study to technically validate its trisomy 21 non-invasive prenatal test, called T21, which it plans to launch as a laboratory-developed test in late 2011.
In June, the Sequenom Center for Molecular Medicine, the firm’s wholly owned molecular diagnostics lab, began the study, which aims to technically verify and validate the test. Sequenom said in May that it decided to run the test on a next-gen sequencing platform, initially developing it on the Illumina technology (IS 5/18/2010).
The internal study "is more of a technical study to make sure all T’s are crossed and I’s are dotted before we go into the [clinical] validation study," said Sequenom Senior Vice President of R&D Ron Lindsay during a conference call to discuss the firm’s second-quarter earnings last week.
"The expectation is that we have tweaked all the appropriate parts of this very complex test, and this is the trial run before we embark on the very large and expensive sample bank," explained CEO Harry Hixson.
For the study, the lab will run approximately 450 blinded clinical samples from pregnant woman with an increased risk for fetal trisomy 21. The company expects to complete the study late in the third quarter, and to publish the results in a peer-reviewed journal in early 2011.
After successfully completing the study, Sequenom plans to perform a larger clinical validation study with its medical collaborators, which Hixson said depends on ongoing sample collection efforts. These efforts "are progressing well, and we anticipate having collected sufficient T21 high-risk samples for Sequenom CMM to complete the [clinical] validation study without delay," he said.
The sequencing-based test currently runs on the Illumina sequencing platform, but Sequenom’s MassArray platform also has a role in assessing the sample quality prior to sequencing.
Sequenom reiterated that it plans to launch the T21 test as a laboratory-developed test that runs in its CLIA lab, following the publication of the clinical validation study. It has nearly completed a second CLIA lab in San Diego, which it expects to become operational early in the fourth quarter and which will run the test.
Later, the firm plans to perform "appropriate clinical studies" to be able to file for premarket approval of the test with the FDA, Hixson said.