CENTOGENE today announced a new research study to identify genetic variants in patients with hypophosphatasia (HPP). The one year multicentric research study will be conducted in Rostock, Germany and Bogotá, Colombia.
“We are excited to be leveraging our genetic expertise and knowledge to further identify and better understand the genetic mutations that play a role in the clinical spectrum of HPP,” said Dr. Arndt Rolfs, CEO CENTOGENE. “We are deeply committed to bringing hope to patients and their families by shortening the diagnostic odyssey, and we are proud to be working on this important study to better understand mutations in the ALPL gene. We are focused on leveraging the insights gained from this research to help to accelerate the diagnosis of our patients.”
HPP is an inherited rare metabolic disease that is characterized by low tissue-nonspecific activity of the enzyme alkaline phosphatase (ALP), which plays an essential role in bone and teeth building and maintenance. Known pathogenic variants in the ALPL gene lead to HPP, however, an unknown percentage of clinically diagnosed HPP patients do not carry ALPL pathogenic variants. The research is designed to identify mutations in genes, that may cause a phenocopy of HPP and therefore being mixed up or not diagnosed.