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Centogene AG. (12/10/18). "Press Release: Centogene and Chiesi Germany Sign Strategic Alliance in Lysosomal Storage Disorders". Rostock & Hamburg.

Organisations Organisation Centogene AG
  Group Centogene (Group)
  Organisation 2 Chiesi GmbH
  Group Chiesi (Group)
Products Product DNA testing services
  Product 2 DRUGS, ORPHAN
Index term Index term Chiesi–Centogene: genetic services, 201812– collab epidemiology study in lysosomal storage diseases with focus on AM by Centogene for Chiesi GmbH
Person Person Rolfs, Arndt (Arcensus 202012– Managing Director before Univ Rostock Prof + Centogene 201406– CEO + Founder)

CENTOGENE to perform epidemiology study in Alpha Mannosidosis to support Chiesi’s drug discovery and development

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.”


CENTOGENE unlocks the power of genetic insights to improve the quality of life of patients with genetic diseases. We achieve this through knowledge created by our worldwide diagnostic testing services incorporating global diversity, the world’s leading proprietary human genetic interpretation database, CentoMD® and solutions for pharmaceutical companies developing life-changing orphan drugs.

As one of the largest genetic testing companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and hope for patients with rare diseases and their families.;

The Chiesi Group

Based in Parma, Italy, Chiesi is an international research-focused Healthcare Group, with over 80 years of experience in the pharmaceutical industry, present in 26 countries. Chiesi researches, develops and markets innovative drugs in the respiratory therapeutics, specialist medicine and rare disease areas. Its R&D organisation is headquartered in Parma (Italy), and integrated with other key R&D groups in France, the USA, the UK, and Sweden to advance Chiesi's pre-clinical, clinical and registration programmes. Chiesi employs more than 5,300 people. For more information, please visit:

Chiesi GmbH in Germany

Chiesi GmbH is headquartered in Hamburg and employs around 330 people, who work both in office and field-based roles. As one of Chiesi’s biggest sales companies, in the year 2017 it achieved a turnover totaling EUR 176 million. Chiesi supports all those involved in patient care, helping them to give patients a better quality of life, and is also actively involved in shaping and further developing the healthcare system. In 2018 Chiesi was once again awarded the accolade of Top Employer by the TOP Employers Institute.


Doreen Niemann
+49 381 80113510

Lauren Arnold
MacDougall Biomedical Communications
+1 781-235-3060

Chiesi GmbH
Leiter Customer Experience & Communication
Bastian Makenthun
Gasstraße 6
D - 22761 Hamburg
Tel. +49 40 89724 222

Record changed: 2018-12-13


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