Key Proteo, a proteomics diagnostics company specializing in the enhanced early detection of rare but treatable genetic disorders, has submitted a de novo classification request to the U.S. Food and Drug Administration (FDA) for its in vitro diagnostic Key Proteo Newborn Screening Kit. 

A Proteomics-Based Newborn Screening Kit

The novel proteomics-based screening panel addresses a critical, unmet need to aid in the early identification of four treatable rare genetic disorders that current newborn screening programs do not typically test for.

These rare genetic disorders include:

  • Wilson Disease (WD)
  • Wiskott-Aldrich Syndrome (WAS)
  • X-linked Agammaglobulinemia (XLA)  
  • Adenosine Deaminase Deficiency (ADA) 

Early screening has the potential to enable timely intervention that can help change the clinical trajectory and relieve the burden of disease for patients and their families afflicted by these potentially devastating disorders, according to Key Proteo.

The submission of Key Proteo’s Newborn Screening Kit 1 comes after screening over 22,000 newborn samples in an ongoing pilot study in Washington state. Subsequently, Key Proteo successfully completed a clinical study that included 3,294 newborn samples analyzed at 3 sites across North America.

Spearheading Change in Clinical Management

“We are excited to lead the charge towards changing the clinical course of treatable rare genetic disorders that are currently being missed,” says Mark Willig, president and CEO of Key Proteo. “Enhanced early screening is key to enabling clinical interventions that can significantly help reduce morbidity and mortality. I am extremely proud of the tireless efforts that our team has made over the past five years to reach this important milestone not just for our company, but for the patients and their families that will benefit from these life-altering screening tools.”

Further reading: Key Proteo’s Clinical Lab Expansion Plans Include New CLIA-Certified Lab

Expanding Horizons: Key Proteo’s Versatile Platform and Future Prospects

With its initial focus on addressing unmet needs for WD, WAS, XLA, and ADA in the newborn screening space, nearly 100 treatable genetic disorders have been identified that could potentially be adapted to Key Proteo’s dynamic proteomics-based platform. The in vitro diagnostic Key Proteo Newborn Screening Kit 1 will only be available for commercialization once the FDA has completed its process. Currently, Key Proteo Newborn Screening Kit 1 is available as an RUO offering.

In parallel path, Key Proteo is also expanding its operations to include a CLIA-certified laboratory to serve unaddressed newborn screening needs among public health laboratories, reference laboratories, hospital laboratories and other providers associated with neonatal care that may prefer to send-out for these and other critically important newborn screening tests.