Orfadin receives positive opinion from CHMP for treatment of alkaptonuria.- Swedish Orphan Biovitrum

Orfadin (nitisinone) receives positive opinion from CHMP for treatment of AKU . Swedish Orphan Biovitrum AB (publ) (Sobi) announces that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion for Orfadin (nitisinone) for the treatment of adult patients with alkaptonuria (AKU), the first described human genetic disease. The opinion is now referred to the European Commission for a decision. The opinion is based on the scientific results of the DevelopAKUre clinical development programme, a research consortium initiated by the AKU Society and clinical experts. DevelopAKUre is an award-winning example of patient-centric collaboration on a European scale in order to treat an ultra-rare disease. The DevelopAKUre programme included a long-term, international phase III clinical efficacy study in 138 patients demonstrating that nitisinone 10 mg per day was well tolerated and shown to be effective in reducing urinary excretion of the causal agent of alkaptonuria, homogentisic acid (HGA), resulting in a reduction of the disease process (ochronosis) and clinical signs, indicating a slower disease progression in adult patients with AKU. The study was recently published in the Lancet Diabetes and Endocrinology. See-Ranganath et al. Lancet Diabetes Endocrinol 2020; 8: 762-72. AKU (alkaptonuria) is a serious, multifaceted, debilitating and slowly progressive disease affecting approximately 1 in every 250 000 to 1 million people. Also known as Black Bone Disease or Black Urine Disease due to the disease characteristics, it is an extremely rare genetic condition, which can cause significant damage to the bones, cartilage and tissue which eventually leads to joint disease. The medical need is high as there is currently no pharmacological treatment available. Current therapy primarily consists of palliative analgesia and arthroplasty.