CENTOGENE and Chiesi Germany sign a strategic alliance in lysosomal storage disorders

­­CENTOGENE and Chiesi Germany today announced a strategic collaboration in lysosomal storage disease with special focus on Alpha Mannosidosis (AM) in Europe, a rare genetic disorder affecting approximately 1 in 1,000,000 newborns.

CENTOGENE will conduct an epidemiological study focusing on the analysis of the prevalence of AM, performing full gene sequencing of the underlying gene, MAN2B1, to identify mutations that affect the function of the gene and lead to alpha mannosidosis. Under the terms of the agreement, CENTOGENE will use its proprietary validated dried blood spot collection kit, CentoCard®, to collect samples from patients suspected to suffer from alpha mannosidosis.

AM is an ultra-rare, inherited disorder caused by the absence or malfunction of alpha-mannosidase, an enzyme involved in the cellular breakdown of glycoproteins. The long-term prognosis for untreated patients is generally poor, with massively reduced life expectancy. Individuals with the early onset form of AM often do not survive past childhood.

Developing treatments for AM is one of three core indications Chiesi is pursuing in the rare disease space. In March 2018, Chiesi received European marketing authorization for a medicine to treat non-neurological manifestations in patients with mild to moderate AM.

“Our joint collaboration underpins our globally strong position to speed up the early identification of patients with rare genetic diseases. We welcome the opportunity to work with Chiesi, the emerging leader in Alpha Mannosidosis therapy, and provide valuable epidemiological and prevalent insights into this devastating condition,” said Dr. Arndt Rolfs, CEO and founder of CENTOGENE.

“The world of rare diseases is incredibly complex and for the patients and their families awaiting a diagnosis and subsequent treatment plan, can be extremely frustrating and uncertain. Supporting CENTOGENE in their work will help to identify opportunities for early diagnosis of this ultra-rare lysosomal storage disease,” said Dr. med. Raimund Hövelmann, Medical Director at Chiesi Germany. “Like CENTOGENE, we are focused on rare diseases and we look forward to helping patients access effective treatment, receive social and medical care and live their lives to the fullest.”