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Rady Children's Institute for Genomic Medicine Partners With Inozyme Pharma on NGS Newborn Screening

NEW YORK – Inozyme Pharma said on Thursday that it has partnered with the Rady Children's Institute for Genomic Medicine (RCIGM) on whole-genome sequencing-based newborn screening for genetic diseases.

Through the BeginNGS consortium, the partners will use whole-genome sequencing-based newborn screening to identify infants affected by ENPP1 deficiency and ABCC6 deficiency. Inozyme is developing a novel therapy, INZ-701, currently in Phase I/II clinical trials, to treat the rare genetic diseases of ENPP1 and ABCC6 deficiencies, which can result in abnormal mineralization in blood vessels, soft tissues, and bones.

RCIGM and Inozyme are founding members of the BeginNGS consortium, joined by Alexion, AstraZeneca, Illumina, TileDB, Fabric Genomics, Genomenon, Travere Therapeutics, and patient advocacy groups. And RCIGM has begun a pilot program to evaluate WGS-based screening for approximately 400 rare genetic diseases as a supplement to existing newborn screening in the US.

"With the proven clinical utility of diagnostic rapid WGS, we are using that experience to screen, diagnose, and help treat genetic conditions at or before onset of symptoms," Stephen Kingsmore, CEO of RCIGM, said in a statement.

Newborn screening will be essential to identifying and initiating timely intervention in children with rare genetic disorders like GACI (generalized arterial calcification of infancy) as we advance INZ-701 through clinical testing,” said Catherine Nester, VP of physician and patient strategies at Inozyme Pharma. "We look forward to working with Rady Children’s Institute for Genomic Medicine and with the BeginNGS consortium to advance the use of this promising screening technology.

ENPP1 deficiency is a condition characterized by vascular calcification and the overgrowth of smooth muscle cells inside blood vessels with high infant mortality in the first six months. ABCC6 deficiency, a related disorder that also leads to harmful soft tissue calcification, affects more than 67,000 individuals worldwide, according to Inozyme. There are no approved therapies for either condition, Inozyme said.

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