Centogene Expands Partnership With Agios to Generate Novel Insights Into Rare Blood Diseases

Centogene N.V. recently announced it has expanded its partnership with Agios Pharmaceuticals, Inc to provide genetic testing and clinical trial support for Agios’ three global, pivotal trials in thalassemia and sickle cell disease. Under a previous agreement, Centogene provided support for Agios’ pyruvate kinase (PK) deficiency clinical program.

The companies signed a commercial 3-year fee-for-service agreement. Agios will be coordinating and bearing the costs for the programs; further financial details were not disclosed. This collaboration will offer patients access to genetic testing to help identify causative mutations, including HBA1, HBA2, and HBB genes. Agios’ global clinical trials will enroll patients in North America, Europe, MENA, APAC, and LATAM. Samples will be collected using Centogene’s proprietary CentoCard for dried blood spot analysis.

A key asset to the partnership is Centogene’s unique rare disease-centric Bio/Databank, which is positioned to accelerate precise diagnosis and continue to build novel insights into the genetic factors causing rare diseases.

“With our globally leading Bio/Databank of rare diseases, we are the partner of choice in discovery and development of rare disease treatments. Our data-driven insights enable both acceleration and de-risking of clinical trials,” said Andrin Oswald, MD, Chief Executive Officer at Centogene. “Combining both Centogene’s expertise in genetics and unique global insights will lead to a better understanding of the disease biology of those rare diseases. This partnership will support the advancement of Agios’ first-in-class PK activator as a potential therapy for thalassemia and sickle cell disease, two under-served patient communities in need of new treatment options.”

“As we look ahead to initiating three global, pivotal trials in thalassemia and sickle cell disease by the end of the year, we are pleased to expand our partnership with Centogene to better understand the underlying genetics of patients in our studies and the potential impact of our investigational medicine,” added Sarah Gheuens, MD, PhD, Chief Medical Officer at Agios. “At Agios, we know that great science requires world-class teamwork. By working with outstanding partners like Centogene, we can together accelerate innovations that make a positive difference in patients’ lives.”

Thalassemia is an inherited blood disorder, affecting approximately 18,000-23,000 people in the US and France, Germany, Italy, Spain, and the United Kingdom (EU5), with many more in other parts of the world. The inherited mutations in hemoglobin genes cause the body to produce less hemoglobin than normal, which is essential in enabling red blood cells to carry oxygen, resulting in severe anemia and related complications.

There are two types of thalassemia, beta and alpha. Both present in an autosomal recessive manner, and approximately 5% of the global population has a mutation in the beta or alpha globin genes. Some patients require chronic transfusions which can be associated with long-term complications such as iron overload and associated organ damage. In patients who do not require chronic transfusions, serious complications can also occur, including pulmonary hypertension and thrombosis.

There have been recent therapeutic advances for beta-thalassemia; however, unmet needs remain, and further disease understandings and additional treatment options are needed. There are no approved treatments for alpha-thalassemia.

Sickle cell disease is an inherited red blood cell disorder, with approximately 120,000-135,000 people in the US and EU5 affected, with many more in other parts of the world. Sickle cell disease is caused by the presence of a mutated form of hemoglobin, which blocks off blood vessels. As a result, blood is unable to properly flow, which can lead to severe pain and organ damage.

Sickle cell disease is associated with serious complications, including infection, acute chest syndrome and stroke, and can result in shortened life expectancy. Thanks to recent advances in research and clinical progress, there are treatment options available today; however, patients continue to suffer from acute and chronic pain as well as serious complications, and further therapeutic advances are needed.

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 affects approximately 3,000-8,000 people in the US and EU5. PK deficiency may result in serious complications, such as pulmonary hypertension, extramedullary hematopoiesis, and osteoporosis. There are currently no approved disease-modifying therapies for PK Deficiency.