Efforts to develop genetic diagnostics for spinal diseases received a boost as Predictive Therapeutics, a subsidiary of Predictive Technology Group, Inc. (PRED) of Salt Lake City, Utah, announced a favorable ruling from the U.S. Patent and Trademark Office’s Patent and Appeal Board (PTAB) for its spine deformity test. The company uses gene-based information to develop new diagnostics that assess a person’s risk of disease and therapeutic products designed to effectively prevent and/or treat diseases. Two of those diseases are scoliosis and degenerative disc disease (DDD).
On February 2, 2016, the company announced that the favorable ruling related to the spinal deformity molecular diagnostic tests and companion therapeutics (U.S. Patent application 20150127105).
According to Mike Schramm, the company’s director of intellectual property, the PTAB, “completely reversed the examiner and tacitly approved all twenty pending claims of the ‘105 application and we now look forward to a speedy allowance. The claims of the ‘105 application build on previously issued US patents 8, 123, 787 and 8, 641, 738 to which ‘105 claims priority and further bolster PRED’s intellectual property position.”
Genetic Scoliosis Test
The company says its Genetic Scoliosis Test will, “dramatically” change the way that scoliosis is diagnosed and treated in the U.S. “After years of development, testing DNA samples from more than 9, 000 patients, tracking billions of genotypes and making trillions of calculations, the specific, genetic markers for scoliosis were found. It is significant because it will enable physicians to use a simple test to accurately identify before taking dozens of X-rays and prescribing extensive bracing—which patients will progress to a severe stage. Not only will this save millions of dollars, but it also will change the treatment paradigm to one with earlier and presumably more successful intervention.”
According to the company, sensitivity and specificity were confirmed in two clinical trials, with each trial including over 400 scoliosis patients. The Negative Predictive Value in the intended use population is 93%–98% (89–100), as confirmed by the clinical trials.
“These landmark studies have provided researchers with greater insights into the genetic markers associated with spinal curve progression. The AIS [adolescent idiopathic scoliosis] Prognostic Test, which can determine whether a child has a mild or more severe likelihood of curve progression, at the very first presentation of symptoms, will provide comfort to thousands of children and their families every year. The use of this DNA-based testing to determine the likelihood of disease progression will initiate a new era of improvements in spine health in children. From a clinical standpoint, this test delivers the promise of personalized medicine to spine surgeons who will now have the ability to accurately determine the likely disease progression for an individual AIS patient, and they can make evidence-based recommendations for patient-specific treatment options, ” stated the company.
The test comprises a saliva-based 53 SNP marker panel that predicts the risk of curve progression to a severe curve by skeletal maturity. Indication is for Caucasians between the ages of 9-13 diagnosed with mild AIS (10-25 degree Cobb angle). Clinical studies are in progress with the objective to modify test for other ethnicities. Approx. 9, 500 individuals have been tested during R&D, subsequently two validation trials with >800 AIS patients & 1, 000 controls. The specificity of Scoliosis Test is 99% (99-100%).
Without providing details of specific therapies, the company says it has also secured the exclusive worldwide rights to the intellectual property supporting a DDD test.
Genetic diagnostics present interesting regulatory issues as they do not require approval by the FDA in order to go to market if the tests are Laboratory Developed Tests (“LDTs”), which are regulated under the Clinical Laboratory Improvement Amendments (“CLIA”). It is estimated that of the 2, 000 genetic tests commercially available less than a dozen were reviewed by FDA.
