Former type Privately held Founded 2002 | Defunct 2013 (2013) Ceased operations 2013 | |
Axial Biotech, Inc. was a privately held molecular diagnostics company based in Salt Lake City, Utah. It was founded in 2002 by a group of internationally recognized spine surgeons and geneticists, and was closed in March 2013.
Contents
The company's mission was to deliver diagnostics that improve and personalize the treatment of spine disorders. Axial Biotech conducted genetic research on scoliosis and degenerative disc disease.
In September 2009, Axial Biotech announced the commercial launch of the ScoliScore AIS Prognostic Test. ScoliScore is the first DNA-based diagnostic test for scoliosis. In 2012 Transgenomic acquired the rights to the ScoliScore test.
AIS genetic testing
AIS genetic testing is the process of analyzing the DNA of a patient who has been diagnosed with Adolescent Idiopathic Scoliosis to determine his or her likelihood of progression to a severe spinal curve.
AIS is the most common pediatric spinal deformity and is defined as a lateral curvature of the spine of greater than 10 degrees with a rotational component and with no other etiologic explanation for spinal deformity, presenting in a child nine years of age or older. There can be many causes for spinal deformity, including congenital, neuromuscular, traumatic, and others. Idiopathic Scoliosis is that for which all other etiologic explanations have been ruled out.
Medical intervention for scoliosis depends on the degree of curve severity. Only approximately 4% of AIS patients will progress to the point where surgery is done. The majority of adolescents with idiopathic scoliosis are observed at regular intervals (usually between 4–6 months) with a physical exam and x-ray to evaluate the magnitude of the curve.
Genetic testing allows physicians to identify individual patients' risk of curve progression with a surrogate outcome, meaning risk of progression can be known without patients being subjected to frequent office visits and exposure to radiation from multiple radiographs.
Adolescent Idiopathic Scoliosis is a polygenic trait, meaning it is affected by the characteristics of more than a single gene. The heritability of scoliosis has long been suspected, and many research projects have been conducted in search of the genes responsible for the disease.
Axial Biotech performed a genome-wide association study, testing millions of genetic markers to find any associated with scoliosis. The study of DNA heritability was enhanced through the use of rich genealogical data available in Utah. Utah contains the headquarters of The Church of Jesus Christ of Latter-day Saints, which emphasizes the knowledge of ancestry and genealogy. Over the course of the research, DNA samples from over 9500 patients from 100 clinical sites worldwide were analyzed.
Researchers at Axial Biotech identified 53 genetic markers (28 which, when positive, contribute to the progression of the scoliosis curve and 25 which, when positive, protect against the progression of the curve.) The ScoliScore test was developed around these 53 markers.
ScoliScore
ScoliScore AIS Prognostic Test is a genetic test, which analyzes the DNA of patients who are diagnosed with Adolescent Idiopathic Scoliosis, the most common type of scoliosis. The test shows the likelihood of spinal curve progression. In other words, it helps doctors and patients to see how likely it is that a patient's spine will become more curved and whether it is likely that the patient will eventually need surgery or other interventions.
Approximately 85-90% of patients initially diagnosed with AIS will never have their mild scoliotic curve progress to a magnitude that requires surgical treatment. The test results may be used to predict, with over 99% probability, when a mild scoliotic curve is unlikely to progress to the point of requiring surgical treatment. This knowledge can make it unnecessary for these patients to undergo numerous office visits and be exposed to radiographic imaging over many years to monitor potential curve progression. The ScoliScore test is a powerful tool, which helps physicians predict spinal curvature through one test, accomplishing what was previously only possible through years of observation.
The test is distributed by DePuy Spine, a Johnson & Johnson company. It was made available in a few physicians offices in September, 2009, and will be commercially launched in 2010.
The genetic research behind the clinically validated ScoliScore AIS Prognostic Test began in 2003, as researchers explored the entire human genome searching for genes that were linked to Scoliosis. DNA samples from over 9,000 patients from 85 clinics worldwide were analyzed. The researchers identified 53 genetic markers (or mistakes in the DNA) that are linked to AIS.
Today, lab workers use special equipment to read each of those 53 genetic markers for all patients who take the ScoliScore test. The test results are given in a ScoliScore, a numerical value that corresponds to the likelihood of curve progression. Each ScoliScore falls into one of three categories, mild risk, intermediate risk, or severe risk of curve progression.
The test is indicated for male and female patients diagnosed with Mild (10–25° Cobb angle) Adolescent Idiopathic Scoliosis (AIS) who are from 9 to 13 years of age and who are self-reported as Caucasian (including patients of North American, South American, European, Eastern European, Middle Eastern, or Southwest Asian descent.)
In 2012 Transgenomic acquired the rights to the ScoliScore test.