CENTOGENE, the worldwide leader in elucidating rare disease genetics for patients, clinicians and pharmaceutical partners, today announced a clinical development collaboration with Orphazyme A/S (CPH: ORPHA) to improve the lives of patients and families living with neuronopathic Gaucher disease, a rare, inherited, progressive and debilitating lysosomal storage disorder.
Under the terms of the agreement, CENTOGENE is supporting Orphazyme’s clinical trial efforts in India for the use of the small molecule, arimoclomol, for the treatment of neuronopathic Gaucher disease.
“Being able to monitor the treatment improvement in a clinical trial is a crucial capability for the pharmaceutical industry today. With our deep expertise in biomarker identification and development of diagnostic tools combined with our profound rare disease knowledge and global reach, we are ideally positioned to be the partner of choice for Orphazyme and drug developers worldwide,” said Dr. Arndt Rolfs, CEO and founder of CENTOGENE.
CENTOGENE is responsible for processing and analyzing a variety of different sample types from patients participating in the trial including plasma, cerebral spinal fluid and dried blood spots from CENTOGENE’s CentoCard®. Furthermore, CENTOGENE has developed and is using the most sensitive and validated biomarker for Gaucher disease, lysoGb1, as a monitoring tool during the trial.
About Gaucher disease
Gaucher disease is a rare, inherited metabolic disorder. Due to the lack of the enzyme glucocerebrosidase, sugar containing fat molecules called glycolipids accumulate in the cell’s lysosomes. The symptoms of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), anemia and blood cells promoting clotting (thrombocytopenia) and skeletal abnormalities. The symptoms vary greatly from patient to patient, causinga challenge for clinical development of novel therapeutics in the space. The neurological aspects of the disease present an unknown future regarding quality of life and life expectancy. Approximately, 10,000-15,000 people in the US and Europe are affected with Gaucher disease.
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 most diversified and largest genetic testing companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and hope for patients and their families.
About Orphazyme A/S
Orphazyme is a biopharmaceutical company focused on bringing novel treatments to patients living with life-threatening or debilitating rare diseases. Our research focuses on developing therapies for diseases caused by misfolding of proteins and lysosomal dysfunction. Arimoclomol, the company’s lead candidate, is in clinical development for four orphan diseases: Niemann-Pick disease Type C, Gaucher disease, sporadic Inclusion Body Myositis, and Amyotrophic Lateral Sclerosis. The Denmark-based company is listed on Nasdaq Copenhagen (ORPHA.CO). For more information, please visit www.orphazyme.com