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New Study Presents Novel Solution to Increasing Diagnostic Yield and Accelerating Diagnosis of Rare Disease

October 31, 2022 Ann Arbor, MI

New Study Presents Novel Solution to Increasing Diagnostic Yield and Accelerating Diagnosis of Rare Disease

Genomenon and Inozyme Pharma Publish Most Comprehensive Locus-Specific Database of Variants and Patients for ENPP1 Deficiency

Genomenon®, Inc., 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, is the largest ever gathered, and demonstrates the necessity of comprehensive genomic data for accelerating the diagnosis of rare disease.

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.

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 5 patients not previously published, and interpreted the data with Mastermind. This method resulted in the most complete 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.

“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,” said 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.”

“Genomenon has worked with Inozyme for the past year to produce the world’s most comprehensive variant landscape for ENPP1 Deficiency,” said Mark Kiel, MD, Ph.D., 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. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank 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.

About ENPP1 Deficiency
ENPP1 Deficiency is a progressive condition that manifests as a spectrum of diseases. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI), which is characterized by extensive vascular calcification and neointimal proliferation (overgrowth of smooth muscle cells inside blood vessels), resulting in myocardial infarction, stroke, or cardiac or multiorgan failure. Approximately 50% of infants with ENPP1 Deficiency die within six months of birth. Children with ENPP1 Deficiency typically experience rickets, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2), while adults experience osteomalacia (softened bones), and they can exhibit a range of signs and symptoms that include hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are no approved therapies for ENPP1 Deficiency.


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

Inozyme Pharma

Inozyme Pharma, Inc. (Nasdaq: INZY) is a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases impacting the vasculature, soft tissue, and skeleton. We are developing INZ-701, a first-in-class enzyme therapy, to address pathologic mineralization and intimal proliferation which drive morbidity and mortality in these severe diseases. INZ-701 is currently in Phase 1/2 clinical trials for the treatment of ENPP1 Deficiency and ABCC6 Deficiency.

For more information, please visit www.inozyme.com and follow us on LinkedIn, Twitter, and Facebook.

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