The Rady Children's Institute for Genomic Medicine (RCIGM) and IDbyDNA, a metagenomics technology company translating microbial genomics into actionable information for healthcare providers, have launched a clinical trial to improve diagnostics for pediatric central nervous system (CNS) infections.
The trial, titled PIPSEC - Pediatric Infectious disease Precision medicine using Sequencing Evaluation of CSF, will evaluate IDbyDNA's next generation sequencing and analysis platform, Explify, for its diagnostic capabilities in the field of pediatric CNS infections.
"Diagnosing children who present with symptoms of CNS infection is both complex and extremely time sensitive. It is essential for physicians to have access to solutions that will not only provide pathogen ID quickly, but will also inform them if the symptoms arise from an infection or from an autoimmune disease," said Stephen Kingsmore, M.D., D.Sc., President and CEO of the Institute.
"Having such a platform that can analyze all aspects simultaneously would be a game changer, which is why we are excited to work with IDbyDNA to potentially help making this test a part of the standard of care," he added.
In the trial, excess cerebral spinal fluid (CSF) samples collected from children for diagnosis will be analyzed using the Explify Platform, with the results compared to standard of care. All actionable information will be acted upon according to the judgement of the specific site principal investigator (PI) and the study PI, Lauge Farnaes, M.D., Ph.D.
The analysis is based on next generation sequencing (NGS) of the sample and the comparison of the results to a database containing over 50,000 microorganisms and over 3,000 pathogens. In addition, the platform analyzes both DNA and RNA in the same sample and provides information on both the microbial content in the sample as well as the patient's immune response.
"The Explify platform is unique in that it can analyze many types of samples and detect all types of pathogens including bacteria, viruses, fungi and parasites. It is not only unbiased in pathogen detection, but actually unbiased toward sample source," said Guochun Liao, Ph.D., IDbyDNA's Founder, President & Chief Executive Officer.
"These capabilities allow us to quickly and efficiently move into new areas of microbial profiling and pathogen detection and form collaborations with both hospitals and clinical laboratories regardless of their specialty," he added. "The team at RCIGM is world renowned for their advanced genomics diagnostics, and we are proud to be collaborating with them. Most importantly, we are looking forward to possibly helping sick children by finding the exact cause of their disease."
Lauge Farnaes, M.D, Ph.D., the Institute's Assistant Medical Director and the study PI added, "Children admitted with symptoms of CNS infection can easily be misdiagnosed and given the wrong treatment. These symptoms can arise from an infection, whose source is often hard to detect, or from an immune response not related to infection.
"Unfortunately, the treatments are completely different, and without the right diagnosis physicians may end up worsening the case. The promise of the Explify Platform is that it can detect both the origin of the disease, be it infection or the immune system, and when it is a pathogen, the platform is able to detect the exact pathogen to inform of further treatment steps."