Belzutifan

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.

BridgeBio Pharma has received European approval for a drug that treats cardiomyopathy stemming from a rare metabolic condition, strengthening the biotech’s position to take market share from the blockbuster Pfizer drug that is currently the standard treatment. The European Commission granted marketing authorization to acoramidis, which BridgeBio developed as treatment for transthyretin amyloidosis (ATTR), a disease in which a genetic mutation leads to abnormal versions of the liver protein transthyretin (TTR). The misfolded proteins can cause nerve and heart problems. BridgeBio’s acoramidis, which will be commercialized in Europe as Beyonttra, is a small molecule designed to stabilize TTR to treat the cardiomyopathy caused by the disease. The biotech contends its drug is a better stabilizer than the drugs marketed by Pfizer. For 2024, Pfizer reported $3.3 billion in revenue from its Vyndaqel family of TTR stabilizers, a 36% increase compared to 2023. The FDA approved the BridgeBio TTR drug this past November and it is marketed in the U.S. under the brand name Attruby. In a prescriptions update included in its report of fourth quarter and full year 2024 financial results, BridgeBio said that as of Feb. 17, 1,028 unique patient prescriptions for the drug have been written by 516 unique prescribers since the U.S. approval. That’s an increase from what the company reported last month during the annual J.P. Morgan Healthcare Conference last month, which Leerink Partners said indicates a broadening prescriber base. presented by Health IT Transforming Patient Care: The Role of AI-Powered Assistants The progress in artificial intelligence (AI) is reshaping patient care, across various dimensions, from facilitating faster discharge to curating treatment plans and suggesting lifestyle changes. By IT Medical In Europe, the BridgeBio drug will be commercialized by Bayer per terms of an agreement signed last year. BridgeBio is in line to receive milestone payments and royalties from sales. The first payment is $75 million for the European approval. Here’s a recap of other recent regulatory developments: More Rare Disease Drug Approvals —The FDA approved Mirum Pharmaceuticals drug chenodiol, brand name Ctexli, for treating rare lipid storage disease cerebrotendinous xathomatosis (CTX). This genetic metabolic disorder results in deficient levels of an enzyme important for breaking down fats. Chenodiol is a naturally occurring human bile acid. Under the brand name Chenodal, chenodiol has been marketed for treating gallstones, but it has been used off label as a treatment for CTX. The new FDA approval makes Ctexli the first FDA-approved treatment for CTX. Mirum acquired the drug from Travere Therapeutics in 2023. Sponsored Post Tips for Greater Healthcare Practice Success in 2025 Join us on February 26 at 3 pm ET, and we’ll dive into the key areas where practices are losing time and money and provide solutions to overcome them. By Elation Health and MedCity News —The European Commission approved Livdelzi, a Gilead Sciences drug developed for the rare liver disease primary biliary cholangitis (PBC). The conditional marketing authorization covers use of the daily pill in combination with ursodeoxycholic acid, an older drug that is the standard PBC treatment. The European decision for Livdelzi follows FDA approval of the drug last August. Livdelzi comes from Gilead’s $4.3 billion acquisition of Cymabay Therapeutics last year. —The FDA approved SpringWorks Therapeutics drug Gomekli as a treatment for tumors caused by the rare genetic disorder neurofibromatosis type 1 (NF1). The approval covers treatment of these tumors in both adults and children. That’s an advantage over AstraZeneca’s Koselugo, which is only approved for treating pediatric NF1 patients. —CSL’s garadacimab received approvals in Europe and Japan for treating adults and adolescents age 12 and older who have hereditary angioedema (HAE). The rare disease leads to swelling attacks in tissue beneath the skin. This swelling can close off the airway, putting a patient at risk of death. CSL’s drug, brand name Andembry, is an antibody engineered to inhibit activated Factor XII, a protein that starts the cascade of events leading to unpredictable HAE swelling attacks. Andembry is still under regulatory review in the U.S., Canada, and Switzerland. —Evrysdi, a drug marketed by Roche for the rare disease spinal muscular atrophy, is now approved in a tablet formulation. The product, which was initially developed by PTC Therapeutics and later partnered with Roche, was first approved in 2020 as a liquid administered via an oral syringe or through a feeding tube. The liquid formulation must be refrigerated and kept away from light. The new Evrysdi tablet offers patients a simpler dosing option that can be stored at room temperature. Cancer Drug Approvals —Merck’s Welireg is now approved in Europe as a treatment for adults with von Hillel-Lindau (VHL) disease, a rare genetic disorder that causes benign tumors in the body that can become cancerous. The European Commission’s conditional approval covers patients whose VHL is unsuitable for surgery and requires therapy for renal cell carcinoma, central nervous system hemangioblastomas, or pancreatic neuroendocrine tumors. The commission’s decision also covers the treatment of adults with advanced clear cell renal cell carcinoma that has progressed after two or more lines of therapy. Welireg is a once-daily pill designed to block HIF-2 alpha, inhibiting this protein’s ability to contribute to cancer progression. The FDA approved Welireg in 2021. —The FDA approved Romvimza, an Ono Pharmaceutical drug for tenosynovial giant cell tumor (TGCT). The drug, which came to Ono via the 2024 acquisition of its developer, Deciphera Pharmaceuticals, offers more convenient dosing and a lower risk of liver toxicity compared to Turalio, a Daiichi Sankyo drug that was the first approved systemic therapy for TGCT. —Datroway, a TROP-2-targeting antibody drug conjugate (ADC) from partners AstraZeneca and Daiichi Sankyo, landed FDA approval for treating advanced and unresectable breast cancer that’s classified as HR positive and HER2 negative. It will compete with Trodelvy, Gilead Sciences’ TROP-2-targeting ADC is already approved in the same indication. —Axsome Therapeutics’ Symbravo won FDA approval for acute treatment of migraine with or without aura in adults. The tablet pairs two compounds that target multiple pathways behind a migraine attack. Symbravo is made with proprietary Axsome technology that enables the drug to more quickly achieve maximum concentration in the blood and to maintain a long half-life. Symbravo’s label carries a black box warning for cardiovascular and gastrointestinal risks. The approval marks a comeback for the drug, which received an FDA complete response letter in 2022 due to manufacturing issues. —Foundation Medicine received FDA approval for FoundationOne CDx as a companion diagnostic for the brain cancer drug Ojemda. The test detects the BRAF V600 mutation addressed by the drug, developed by Day One Biotherapeutics. The FDA approved Ojemda last April as a treatment for advanced cases of pediatric low-grade glioma. —Adcetris, an antibody drug conjugate (ADC) developed by Pfizer subsidiary Seagen, added to its label the treatment of advanced cases of diffuse large B-cell lymphoma (DLBCL). The new approval covers use of the drug in combination with the cancer drugs Revlimid and Rituxan. The new FDA approval is based on Phase 3 results showing the Adcetris regimen led to a 37% reduction in risk of death compared to Revlimid, Rituxan, and a placebo. Adcetris was first approved in 2011 for Hodgkin lymphoma and systemic anaplastic large cell lymphoma. The drug now has eight FDA approvals in cancer. Pfizer has rights to the drug in the U.S. and Canada; Takeda Pharmaceutical has rights to the product in the rest of the world. —Blockbuster AstraZeneca cancer drug Calquence, first approved in 2017 for treating advanced mantle cell lymphoma after at least one prior line of therapy, is now approved as a first-line treatment for this rare and aggressive blood cancer. The drug, a BTK inhibitor, is the first in its class approved as a first-line MCL treatment. —Amgen cancer drug Lumakras expanded its FDA approval to metastatic colorectal cancer that is positive for the KRAS G12c mutation and is also unresponsive or resistant to chemotherapy. The regulatory nod in this indication covers use of the daily pill in combination with Vectibix, an Amgen antibody drug approved for colorectal cancer. Lumakras was initially approved in 2022 as a treatment for non-small cell lung cancer driven by the KRAS G12C mutation. Approvals in Immunology —Galderma drug Nemluvio received European Commission approval as a treatment for the inflammatory skin disorders atopic dermatitis and prurigo nodularis. The once-monthly injection is an antibody designed to block IL-31 signaling. The FDA approved Nemluvio for prurigo nodularis and atopic dermatitis last year. —Eli Lilly’s Omvoh, a biologic drug first approved in 2023 as a treatment for ulcerative colitis, added moderately to severely active Crohn’s disease to its label. The drug is an antibody that targets IL-23p19, a protein that contributes to gastrointestinal inflammation. Regulatory submissions in Crohn’s are currently under review in Europe and Japan. In ulcerative colitis, the drug is approved in 44 countries. —Palforzia, a peanut allergy immunotherapy marketed by Stallergenes Greer, expanded the product’s approved uses in Europe to include the treatment of children ages 1 through 3. The initial approval for Palforzia covered children age 4 through 17. The new approval in Europe comes about six months after the therapy secured a similar regulatory decision from the FDA. Privately held Stallergenes Greer added Palforzia to its allergy products portfolio via a 2023 deal with Nestlé. Approvals for Neuro, Pain Meds —Supernus Pharmaceuticals received FDA approval for Onapgo, a drug/device combination product that continuously infuses the drug apomorphine to treat the “off” episodes experienced by Parkinson’s disease patients. Onapgo joins a Supernus Parkinson’s drug lineup that includes Apokyn, an injection pen product that administers apomorphine, and Gocovri, a capsule approved to treat dyskinesia and off time in Parkinson’s patients. —Vertex Pharmaceuticals’ non-opioid drug Journavx won FDA approval as a first-in-class treatment for moderate-to-severe acute pain in adults. The twice-daily pill targets NaV1.8, a pathway in the peripheral nervous system. By stopping pain signals in the periphery before they reach the brain, drugs in this class are intended to avoid the addiction risks poised by opioids, which hit targets in the brain. —The FDA approved Johnson & Johnson’s Spravato as a monotherapy for adults with treatment-resistant depression. The nasal spray drug’s initial approval in 2019 covered its use in combination with an oral antidepressant for treatment-resistant depression in adults. Vaccine Approvals —Bavarian Nordic received FDA approval for its virus-like particle chikungunya vaccine, which will be marketed under the brand name Vimkunya. The FDA nod covers use of the vaccine in those age 12 and older. That’s a broader range than Valneva’s Ixchiq, which became the first FDA-approved chikungunya vaccine in 2023. Ixchiq is indicated for use in those age 18 and older. Bavarian Nordic’s new approval was accompanied by a tropical disease priority review voucher, which the company said it plans to sell. —A GSK vaccine covering five groups of bacteria that cause meningococcal disease is now FDA approved for use in those ages 10 through 25. The vaccine, brand name Penmenvy, combines components of two already available GSK meningococcal vaccines, Bexsero and Menveo. Penmenvy will now compete with Pfizer’s Penbraya, which also covers five bacterial groups. Both vaccines are administered as two intramuscular injections given six months apart. —A Covid-19 vaccine developed by partners Arcturus Therapeutics and CSL is now approved in Europe. The vaccine, brand name Kostaive, employs self-amplifying RNA. Unlike traditional mRNA vaccines, self-amplifying RNA vaccines instruct the body to make more mRNA and protein to boost the immune response. Kostaive was originally developed by Arcturus. In 2022, CSL paid $200 million up front to collaborate on the vaccine. Per deal terms, Arcturus is responsible for regulatory filings in the U.S. and Europe as well as R&D of next-generation vaccine candidates. CSL subsidiary Seqirus takes the lead on all other R&D in Covid-19, influenza, and other fields. More Regulatory Approvals —Izervay, a geographic atrophy drug marketed by Astellas Pharma, is now approved for longer dosing. The product’s initial 2023 approval permitted the once-monthly eye injection to be administered for up to 12 months. The new approval removes the 12 month restriction. However, the Astellas product did not receive the FDA O.K. for every-other-month administration. That additional flexibility would have put it on par with Apellis Pharmaceuticals’ geographic atrophy drug Syfovre, which is approved for monthly and every-other-month dosing. —Novo Nordisk drug Ozempic is now approved for treating chronic kidney disease in patients with type 2 diabetes. The blockbuster drug was initially approved for type 2 diabetes, which is a risk factor for chronic kidney disease. In the pivotal study supporting the latest regulatory nod, Ozempic led to a 24% reduction in kidney disease complications compared to a placebo. —AbbVie’s pairing of the antibiotics aztreonam and avibactam received FDA approval for the treatment of complicated intra-abdominal infections, giving clinicians another tool to address antimicrobial resistance. The therapy, which will be marketed under the brand name Emblaveo, is indicated for use in combination with Flagyl, a Pfizer antibiotic. Emblaveo was developed in partnership with Pfizer. AbbVie has commercialization rights to the drug in the U.S and Canada; Pfizer is responsible for the antibiotic’s commercialization in the rest of the world. Clinical Holds and Regulatory Setbacks —The FDA sent Harmony Biosciences a refuse to file letter for pitolistant, a drug the biotech is seeking to commercialize as a treatment for excessive daytime sleepiness in adults who have idiopathic hypersomnia. In a Phase 3 withdrawal study, the once-daily tablet did not achieve statistical significance compared to placebo. The biotech said a Phase 3 registrational study in idiopathic hypersomnia is on track to begin in the fourth quarter of this year. Pitolistant is already available as a treatment for excessive daytime sleepiness or cataplexy in adults with narcolepsy, marketed as Wakix in this indication. —Moderna’s Phase 3 test of its two-season norovirus vaccine candidate, mRNA-1403, is under an FDA clinical hold. The company said the clinical trial halt is due to a single report of Guillain- Barré syndrome, nerve damage that can be a complication of vaccines. The adverse event is under investigation. The company does not expect the clinical hold will affect the trial readout timeline in the northern hemisphere, where the study is already fully enrolled. The timing of a data readout will depend on case accruals. Second season enrollment is being prepared in the southern hemisphere. —The FDA placed a clinical hold on Ebvallo, a treatment for advanced cases of Epstein-Barr virus positive post-transplant lymphoproliferative disease. The hold came days after the FDA rejected the immunotherapy due to findings from an inspection of a third-party manufacturing facility. The company said the Ebvallo clinical hold relates to the issues flagged in the complete response letter. Ebvallo, which is made by engineering T cells from healthy donors, was approved in Europe in 2022.