According to a story from Benzinga, the biopharmaceutical company Inventiva has recently announced that it has recruited the first patients in a study of biomarkers in Maroteaux-Lamy syndrome. The study will include both pediatric and adult patients. Inventiva is committed to developing orally available small molecule drugs for a variety of indications, such as cancer, lysosomal storage diseases, and fibrosis.
About Maroteaux-Lamy Syndrome (MPS VI)
Maroteaux-Lamy syndrome, which is also referred to as mucopolysaccharidosis VI (MPS VI), is a rare lysosomal storage disease. The effects usually appear at birth. The disease is linked to a deficiency of an enzyme called ASRB. This enzyme normally breaks down chondoitin sulfate and dermatan sulfate. The deficiency is caused be a genetic mutation that is inherited in an autosomal recessive pattern. The disease can cause a range of serious symptoms which can vary between patients. They include nerve pain, cloudy corneas, deafness, delayed walking, growth inhibition, hernias, heart disease, limited movement, skeletal deformities, macrocephaly, and enlarged liver and spleen. Unlike some related illnesses, intelligence is often unaffected. Treatment may include enzyme replacement therapy, certain medications for heart problems or infections, and various surgical procedures. Disease progression and severity range widely as does life expectancy; airway obstructions or heart problems are the most common causes of death for patients with Maroteaux-Lamy syndrome. To learn more about Maroteaux-Lamy syndrome, click here.
Study Goals
The primary goal of this study is to monitor changes in leukocyte and skin glycosaminoglycans (GAG) in three adult and three child patients with Maroteaux-Lamy syndrome following treatment with enzyme replacement therapy. A control group of six unaffected volunteers will also be used as comparison. The study results will be compared to an earlier study of biomarkers that revealed that levels of leukocyte GAGs failed to drop after enzyme replacement.
Inventiva is currently developing a treatment for the disease called odiparcil, which they hope will be able to bring down GAGs more effectively. Odiparcil has earned Orphan Drug status from both the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) as well as Rare Pediatric Disease designation from the FDA. Inventiva is developing the drug with the intent of treating several different types of mucopolysaccharidosis.
