Efanesoctocog alfa

Around the world, events are being held to mark Rare Disease Day (28 February 2025), with the aim of bringing attention to rare diseases and improving access to diagnosis and therapies for patients. There are more than 7,000 known rare diseases that impact an estimated 300 million people globally, yet the lack of scientific knowledge and quality information on rare diseases often results in a delay in diagnosis, and treatment options are only available for a small proportion of rare diseases. Significant progress is, however, continually being made in the rare disease space. Just last week, the US Food and Drug Administration (FDA) approved Mirum Pharmaceuticals’ Ctexli (chenodiol) for adults with cerebrotendinous xanthomatosis (CTX), making it the first treatment to be approved by the regulator for the rare lipid storage disease. Affecting up to 2,000 people in the US, CTX is a progressive genetic disorder caused by a deficiency of an enzyme that allows the body to break down fats. This results in the deposition of atypical cholesterol metabolites in the brain and other areas of the body. Mirum’s chief executive officer, Chris Peetz, described the approval as “tremendous”, noting that it “unlocks an opportunity to better identify and treat adult patients with CTX in the US”. Gilead Sciences’ seladelpar was also granted conditional marketing authorisation by the European Commission (EC) last week to treat patients with the rare liver disease primary biliary cholangitis (PBC). Approximately 163,000 people in Europe are affected by PBC, an autoimmune disease of the bile ducts that disproportionally affects women. Timothy Watkins, vice president, clinical development of inflammation therapeutics at Gilead, said at the time of the announcement: “People living with PBC in Europe have been waiting for treatment advancements for many years. “Up until now, there has been no approved treatment for PBC addressing both the surrogate biomarkers for underlying disease and pruritus, a common and at times debilitating symptom of PBC.” Merck & Co’s – known as MSD outside the US and Canada – Welireg (belzutifan) was conditionally approved by the EC last week to treat certain patients with von Hippel-Lindau disease, a rare tumour-causing genetic disorder affecting up to 15,000 people in Europe. Sobi’s Sanofi-partnered efanesoctocog alfa also recently received approval by the Medicines and Healthcare products Regulatory Agency to treat the rare bleeding disorder haemophilia A, while SpringWorks Therapeutics’ Gomekli (mirdametinib) was approved by the FDA earlier this month to treat neurofibromatosis type 1, a rare genetic disorder that causes a variety of symptoms across multiple organ systems. Since being established in 2008 by the European Organisation for Rare Diseases, Rare Disease Day has played a critical role in building an international rare disease community and has seen a significant increase in events and campaigns across the world, with patient organisations, medical professionals and research institutions uniting to drive progress in rare disease research and advocacy.

Sobi’s Sanofi-partnered efanesoctocog alfa has been approved by the Medicines and Healthcare products Regulatory Agency (MHRA) to treat haemophilia A. The drug has been authorised under the brand name Altuvoct to treat and prevent bleeding in patients aged two years and older with severe or moderate cases of the genetic bleeding disorder. Haemophilia is a rare condition resulting from insufficient levels of functioning factor VIII, a protein that is essential for blood clotting. Patients can experience bleeding episodes that can cause pain, irreversible joint damage and life-threatening haemorrhages. The active substance in Altuvoct, which is administered as an intravenous injection, replaces the missing factor VIII, helping the blood to clot and providing temporary control of the disorder. The MHRA’s decision on the drug was based on results from the late-stage XTEND-1 study of 159 patients aged 12 years and older with severe haemophilia A. Weekly injections of Altuvoct led to 65% of patients reporting zero overall bleeding episodes over the course of the year-long study, while the remaining 35% saw significant reductions in bleeding episodes. Also supporting the regulator’s decision were positive results from the phase 3 XTEND-Kids trial of 74 children aged under 12 years with severe haemophilia A, as well as data from a modelling exercise of those with moderate cases of the disease. Julian Beach, MHRA interim executive director of healthcare quality and access, said: “Patient safety is our top priority, which is why I am pleased to confirm approval of [Altuvoct] to treat and prevent bleeding in patients two years and above with severe or moderate haemophilia A. “We’re assured that the appropriate regulatory standards of safety, quality and efficacy for the approval of this new formulation have been met. As with all products, we will keep its safety under close review.” Sanofi and Sobi collaborate on the development and commercialisation of efanesoctocog alfa in the US, where it is marketed as Altuviiio, while Sobi has final development and commercialisation rights in Europe, North Africa, Russia and most Middle Eastern markets, with Sanofi holding these rights in North America and all other regions worldwide, excluding the Sobi territory.