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.
