- Peer-reviewed article in Human Mutation reports 3-fold increase in pathogenic/likely pathogenic ENPP1 variants –
- Database identified severely symptomatic patients with monoallelic heterozygous ENPP1 variants –
“Our team continues to apply innovative methods to better understand ENPP1 Deficiency to increase disease awareness and inform our clinical and regulatory efforts, as we work to develop the first potential treatment for this rare and devastating lifelong disease,” said
The review analyzed all published cases of ENPP1 Deficiency (n=154) and results from two natural history studies of GACI and ARHR2 patients.1 The associated genetic variants were interpreted using Genomenon’s Mastermind® Genomic Search, a database of variants with evidence cited in medical literature. The database is used by more than 2,000 genetic testing laboratories and medical centers across the globe and connects patient DNA to relevant scientific research to enable diagnosis and treatment decisions.
Summary of Key Results
- 109 unique ENPP1 variants discovered with 79 identified as pathogenic/likely pathogenic, representing a 3-fold increase in the number of pathogenic/likely pathogenic variants compared to other databases.
- Data suggested no genotype-phenotype correlation.
- Analysis identified severe phenotypes in patients with monoallelic heterozygous ENPP1 variants.
“Genomenon has worked with Inozyme for the past year to produce a comprehensive variant landscape for ENPP1 Deficiency,” said
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.
About
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About Genomenon
Genomenon is an AI-driven genomics company focused on the advancement of positive health outcomes for patients with rare genetic diseases and cancer. Keeping pace with the ever-evolving body of knowledge within genomics, Genomenon connects current research with patient DNA to accelerate clinical decision-making and pharmaceutical drug discovery.
Contacts
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1 Ferreira, Kintzinger, et al., (2021). Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies.
Source:
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