The companies Centogene and Orphazyme are collaborating on a clinical trial of the experimental small molecule therapy arimoclomol for Gaucher disease. The full article can be read here, at BusinessWire.

Gaucher disease is an inherited metabolic condition that affects approximately 10,000 to 15,000 people in Europe and the US. It occurs when not enough of the functioning enzyme glucocerebrosidase is produced, leading to fatty substances called glycolipids building up. This can lead to an enlarged liver and spleen, and, if the glycolipids affect the bones and bone marrow, weakened bones and reduced blood clotting, amongst other symptoms. People who are affected may also experience abdominal pain and anaemia. However, different patients can experience very different symptoms, which makes the condition more difficult to treat. Treatments usually focus on reducing the symptoms of the condition and monitoring its progression. Patients may be offered enzyme therapies to replace the missing enzyme, drugs that affect the production of glycolipids, and medications to strengthen bones. Some people may also undergo surgical procedures such as bone marrow transplants and spleen removals.

The Denmark-based company Orphazyme, which aims to develop treatments for conditions caused by misfolded proteins, is developing the experimental therapy arimoclomol to treat Gaucher disease. It is also hoped to work on three other orphan diseases: sporadic inclusion body myositis, Niemann-Pick disease type C, and amyotrophic lateral sclerosis.

Orphazyme is working on a clinical trial of arimoclomol for Gaucher disease in India, which Centogene has recently agreed to support. Centogene is planning to process and analyse samples taken from patients on the trial, including cerebral spinal fluid, plasma, and blood spots. The company has also agreed to monitor patients using the biomarker they developed for Gaucher disease.

The founder and CEO of Centogene, Dr. Arndt Rolfs, says that the company’s experience with biomarker identification, international position, and knowledge of rare diseases will benefit the collaboration.

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