Bionomics Limited has announced that it had achieved a further milestone in its collaboration with Nanogen on the development of genetic tests for serious forms of childhood epilepsy and the progress of its ongoing clinical study aimed at the validation of a genetic test for a severe form of childhood epilepsy.
The clinical study, led by Associate Professor Ingrid Scheffer and Professor Samuel Berkovic, has been carried out on a group of epilepsy patients many with severe myoclonic epilepsy of infancy (SMEI). The study progress also coincides with the achievement of a milestone in Bionomics’ collaboration with US-based Nanogen Inc, following the submission of comprehensive reports to Nanogen relating to the SMEI diagnostic test.
Professor Samuel Berkovic, Director of the Epilepsy Research Institute at the Austin & Repatriation Medical Centre of the University of Melbourne, and a member of Bionomics’ Scientific Advisory Board, said, “The successful screening of such a large cohort of 100 patients in this collaborative study represents an important milestone. The results provide a quantitative link between SMEI and mutations in a sodium ion channel gene SCN1A and is an important step forward in the improved diagnosis of this form of epilepsy.”
Aspects of the study are being prepared for publication in peer reviewed scientific journals.
Associate Professor John Mulley, lead geneticist on the study, Head of Epilepsy Genetics at Bionomics and Head of Diagnostic Molecular Genetics at the Women’s and Children’s Hospital in Adelaide, said, “There is already a recognized strong relationship between mutations in SCN1A and SMEI. Through this study we have been able to ascertain, with a certainty previously unavailable, the risk of developing SMEI in patients presenting with childhood epilepsy. The screening was particularly helpful in establishing the diagnosis of SMEI in children with severe epileptic encephalopathies with some but not all of the classical features of SMEI.”
Dr Deborah Rathjen, Bionomics’ CEO and Managing Director stated, “The results of this clinical study support the usefulness of a gene based diagnostic for SMEI. It is anticipated that the SMEI test will be Bionomics’ first diagnostic product to market with its use being clearly supported by this clinical data.”
“We already have one commercial partner for this test, US-based Nanogen Inc., and we envisage further commercial relationships which will maximize the returns to Bionomics from this diagnostic product through milestone payments and royalties on product sales. In this context it is pleasing to see that Bionomics, through this clinical study, has now achieved a milestone in its collaboration with Nanogen. Translation of key clinical and genetic data into tangible patient benefits is an important driver for our diagnostic product development program” Dr Rathjen added.