RARE Daily

Centogene and Agios Expand Partnership for Development of Pyrukynd to Treat Children PK Deficiency

June 13, 2022

Rare disease genetic testing services provider Centogene and Agios Pharmaceuticals, a company focused on cellular metabolism to develop therapies for genetically defined diseases, expanded their long-standing Pyrukynd partnership to cover Agios’ global pivotal trials to evaluating its efficacy and safety in children with PK deficiency between the ages of one to 17.

Photo: Kim Stratton, CEO of Centogene

Pyrukynd (mitapivat) is a first-in-class, selective, small molecule activator of the pyruvate kinase (PK) enzyme. In February 2022, Agios received approval from the U.S. Food and Drug Administration for Pyrukynd for the treatment of hemolytic anemia in adults with PK deficiency, which represents the first and only approved disease-modifying treatment for this rare blood disorder. Since 2015, Centogene has provided genetic testing services to Agios for the clinical development of Pyrukynd.

Pyruvate kinase (PK) deficiency is a rare, inherited disease that presents as chronic hemolytic anemia, which is the accelerated destruction of red blood cells. The inherited mutations in the PKLR gene cause a deficit in cellular energy within the red blood cell, as evidenced by lower PKR enzyme activity, a decline in adenosine triphosphate (ATP) levels, and a build-up of upstream metabolites, including 2,3-DPG (2,3-diphosphoglycerate). PK deficiency may result in serious complications, such as pulmonary hypertension, extramedullary hematopoiesis, and osteoporosis. PK deficiency affects approximately 3,000-8,000 people in the United States and the European Union.

Under the expanded agreement, Centogene will provide centralized lab support for Agios’ two global, pivotal phase 3 trials, ACTIVATE-kids and ACTIVATE-kidsT, which are being conducted to evaluate the efficacy and safety of mitapivat in children with PK deficiency between the ages of one to 17. Centogene will continue to provide genetic testing to help identify causative mutations, including the UGT1A1 and PKLR genes, in study participants. The aim of the two phase 3 studies is to test the efficacy of Pyrukynd in pediatric patients with PK deficiency who do not receive regular transfusions and those who do receive regular transfusions, respectively. Agios will be coordinating and bearing the costs for the programs; other financial details were not disclosed.

“Our successful collaboration with Agios has already helped drive incredible clinical progress for this first-in-class PK activator as a potential therapy for children with pyruvate kinase deficiency, an under-served patient community urgently in need of treatment options,” said Kim Stratton, CEO of Centogene. “The expansion of our partnership confirms our ability to help advance novel treatment options that are able to influence health outcomes for patients globally.”

Key assets to the partnership include the Centogene Biodatabank, diagnostic expertise built on more than 15 years of experience, and the company’s multiomic-based platform.

Centogene originally entered into an agreement with Agios in 2015 to provide support for Agios’ PK deficiency clinical program. Last year, the contract was expanded to focus on additional trial support in thalassemia and sickle cell disease.

Author: Rare Daily Staff

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