Genomenon, an AI-driven genomics company, announced the publication of a paper in Human Mutation summarizing current knowledge of clinical and genetic findings in patients with ENPP1 Deficiency. The study, completed in collaboration with Inozyme Pharma, demonstrates the necessity of comprehensive genomic data for accelerating the diagnosis of rare disease, the company says.

Key among the findings of the paper was a three-fold increase in disease-causing variants, which were not found in other commonly used databases. The comprehensiveness of the data found with Genomenon’s approach of AI and expert review provided new insight into the heterogeneity of ENPP1 Deficiency and informed treatment guidance. The data has been made available to doctors, researchers, and clinicians through Genomenon’s Mastermind Genomic Search Engine with the purpose of increasing awareness and diagnosis of the disease and related clinical trials.

“Our team continues to apply innovative methods to better understand ENPP1 Deficiency and inform our disease awareness, clinical and regulatory efforts, as we work to develop the first potential treatment for this rare and devastating lifelong disease,” says Henric Bjarke, Inozyme’s chief operating officer. “The data shared by our collaborators suggest a larger population with ENPP1 Deficiency than previously understood. The publication also shows a lack of phenotype-genotype correlation, supporting treatment regardless of clinical presentation and underscoring the need for an approved therapeutic option.”

Researchers identified all published cases of ENPP1 Deficiency using Genomenon’s Mastermind Genomic Search Engine, a comprehensive database of variants with evidence cited in the medical literature. They then integrated data from two natural history studies of patients with GACI and ARHR2 and five patients not previously published, and interpreted the data with Mastermind. This method resulted in a comprehensive patient and variant database for ENPP1 Deficiency-associated diseases. In total, over 2,300 articles were reviewed using Genomenon’s AI-powered capability. The articles were then reviewed by expert curators to ensure quality.

“Genomenon has worked with Inozyme for the past year to produce the world’s most comprehensive variant landscape for ENPP1 Deficiency,” says Mark Kiel, MD, PhD, chief scientific officer and co-founder of Genomenon. “The AI-driven genetic dataset, along with information on available clinical trials, can be accessed through Mastermind, and has the potential to increase the number of patients who are accurately diagnosed with this devastating rare disease. Our partnership with Inozyme puts critical information about ENPP1 Deficiency at the fingertips of doctors via a database that is continually updated as new evidence is published and will play a key role in addressing missed diagnoses, which has long been a challenge for this disease community.”

Co-authors of the paper include Stephanie A. MercurioLauren M. ChunnGus KhursigaraCatherine NesterKathleen WrayUlrike BotschenMark J. KielFrank Rutsch, and Carlos R. Ferreira. The work was funded by Inozyme Pharma and partly supported by the Intramural Research Program of the National Human Genome Research Institute.