Genomenon Inc., an AI-driven genomics company, has announced a partnership with Inozyme Pharma, a rare disease biopharmaceutical company, to make critical information readily accessible to genetic testing labs and clinicians. This information will help inform diagnosis and treatment decisions in patients with ENPP1 deficiency, a rare disease also known as generalized arterial calcification of infancy (GACI) or autosomal recessive hypophosphatemic rickets Type 2 (ARHR2).

Inozyme Pharma focuses on the development of therapeutics that treat diseases of abnormal mineralization. One of these is ENPP1 deficiency, a progressive diverse condition with serious manifestations occurring throughout life. Those who present in utero or in infancy can experience extensive vascular calcification and neointimal proliferation (overgrowth of smooth muscle cells inside arteries interfering with blood flow). This can result in myocardial infarction, stroke, cardiac failure, or multiorgan failure. The condition is lethal in an estimated 50% of affected babies. 

Children and adults with ENPP1 deficiency typically experience rickets and osteomalacia (softened bones) and can exhibit a range of signs and symptoms that can include hearing loss, joint and bone pain, arterial calcification, cardiac dysfunction, and neurological complications. There are no approved treatments for ENPP1 deficiency.

To help inform and accelerate the diagnosis for patients of all ages with this disease, Genomenon produced a comprehensive variant landscape for ENPP1 deficiency. This AI-driven and expertly curated genetic dataset, along with information on available clinical trials and therapies, has been made available to physicians, researchers, and clinicians through Genomenon’s Mastermind Genomic Search Engine.

“Genomenon’s collaboration with Inozyme Pharma represents a shared mission to ensure that no rare disease patient goes undiagnosed or untreated,” says Mike Klein, CEO of Genomenon. “In the rare disease space, knowledge is power—and this effort will put critical information at the fingertips of doctors seeking diagnoses for their patients.”

Understanding rare diseases remains a significant challenge for clinicians because actionable information is limited. Many rare diseases have an underlying genetic cause, and treatment plans depend on accurate and timely diagnosis. However, these diagnostic journeys can be complex, exhausting, and time-consuming for patients and their families. 

In fact, undiagnosed rare disease patients lose an average of 4.8 years1 of missed intervention opportunities waiting for answers. Once a diagnosis is made, the lack of information on available therapies presents another frustrating scarcity—leaving patients and their caregivers with very few options.

“Genomenon’s AI-driven data has the potential to greatly increase our collective understanding of ENPP1 deficiency,” says Axel Bolte, MSc, MBA, Inozyme’s co-founder, president, and CEO. “We expect our collaboration will improve the speed and accuracy of the diagnostic journey for patients with ENPP1 deficiency by providing the data to them, their caregivers, and medical teams to make informed decisions about their disease, ongoing research, and clinical trials.”2

Mastermind is used by more than 1,000 genetic testing laboratories and medical centers across the globe, connecting patient DNA to relevant scientific research in order to make diagnosis and treatment decisions. The data produced by this collaboration will provide a deeper level of information, including whether certain genetic variations are known to be pathogenic for the disease. Most notably, potential treatment options and open drug trials can be easily exported into a clinical report for the treating physician and patient to review.


1. Hartin, et al. (2020). Expediting rare disease diagnosis: A call to bridge the gap between clinical and functional genomics. Molecular Medicine, 26(1).