In this episode, we discuss highlights from The Liver Meeting, Ultragenyx program cuts, and ANI Pharmaceuticals’ offer to buy Egetis Therapeutics.
Ultragenyx Ends Angelman Syndrome and Wilson Disease Programs
Ultragenyx announced this week that it’s winding down all remaining studies of apazunersen in Angelman syndrome, ending its gene therapy program for Wilson disease, and cutting about 20% of its workforce.
Angelman is a neurodevelopmental disorder caused by the loss of a working copy of the UBE3A gene. Ultragenyx’s phase 3 study with apazunersen missed both its primary and secondary endpoints. So this week’s decision to wind that program down isn’t a big surprise, but it’s still a disappointment for families.
Wilson disease is a genetic disorder where the body can’t get rid of excess copper. Copper builds up in the liver and the brain, causing liver disease and neurological and psychiatric symptoms. Today, patients manage it with lifelong medications that remove copper or block its absorption. Ultragenyx’s gene therapy, UX701, was designed to deliver a working copy of the gene but their most recent dose-finding study, the results were not deemed good enough to continue.
From a business perspective, Ultragenyx has had some important successes recently, including two gene therapy approvals in pediatric rare diseases and the sale of the priority review vouchers that came with them.
Now the company is using that opportunity to refocus its business. It’s reducing its workforce by about 20%, cutting R&D spending significantly, and concentrating resources on commercializing its newly approved therapies and advancing a smaller number of priority programs.
That’s a meaningful shift for a company that has historically pursued a broad portfolio of ultra-rare diseases. The goal now is to build a more sustainable and profitable business.
Highlights from The Liver Meeting: Primary Biliary Cholangitis
The Liver Meeting, the annual meeting of the American Association for the Study of Liver Diseases, was held this past week in Denver. One condition that stood out was primary biliary cholangitis (PBC). Several companies presented new data, including two late-breaking Phase 3 trials, and together they show how the goals of treatment are changing.
PBC is a rare, chronic autoimmune disease where the immune system slowly destroys the small bile ducts in the liver.
Therapy is normally monitored via measurement of alkaline phosphatase, or ALP, in the blood. For years, if a patient’s ALP fell below 1.67 times the upper limit of normal, that was considered an adequate response or “good enough”.
At the Liver Meeting two Phase 3 trials looked at patients who used to be considered adequate responders to see if they could get their ALP levels to normal.
In Gilead’s IDEAL trial with Livdelzi, 75% of patients reached a normal ALP after one year, compared with 16% on placebo. In Ipsen’s ELSPIRE trial with Iqirvo, it was 85% compared with 23%. In Gilead’s IDEAL trial, 75% of patients reached a normal ALP after one year, compared with 16% on placebo. In Ipsen’s ELSPIRE trial of \, it was 85% in the treatment group reaching normal compared with 23% in the control group. One thing to note is that both looked at blood test data. It will be very interesting to see if these lab results line up with improvement in symptoms – namely itching and fatigue.
For years, treatment options for PBC were limited, particularly for patients who didn’t respond adequately to ursodiol. Now there are two newer therapies, Livdelzi and Iqirvo, that are changing expectations for what treatment success might look like.
ANI Pharmaceuticals Offers to Buy Egetis Therapeutics
In a follow-up to CheckRare Brief Episode 10, ANI Pharmaceuticals has made a cash offer of about $560 million to buy Egetis Therapeutics, the company behind Emcitate, which developed the first FDA-approved treatment for MCT8 deficiency.
MCT8 deficiency is a rare genetic disorder, mostly affecting boys, where thyroid hormone can’t get into the brain, and that leads to severe developmental problems. Also, the hormone builds up in the blood and causes symptoms like a racing heart, high blood pressure, and trouble gaining weight.
Emcitate is a thyroid hormone analog that lowers the excess thyroid hormone in the blood. When the FDA approved it in September, it was the first approved treatment for this disease in the U.S. It’s also approved in Europe.
Egetis secured the first FDA approval for MCT8 deficiency and received a rare pediatric disease priority review voucher, which it later sold for $190 million. Now the company itself is being acquired for approximately $560 million.
For ANI, this is an opportunity to add an approved, first-in-class rare disease treatment to its portfolio without taking on the early-stage development risk. It also brings an established commercial infrastructure that could help expand access to the treatment.
References
Ultragenyx Reports Third Quarter 2026 Financial Results (Form 8-K)
https://www.sec.gov/Archives/edgar/data/1515673/000119312526445342/rare-20261030.htm
Ultragenyx Cuts Workforce, Ends Angelman and Wilson Programs (Medical Daily)
https://www.medicaldaily.com/ultragenyx-cuts-workforce-ends-angelman-wilson-programs-480930
FDA Investigating Serious Risk of Malignancy Linked to Zolgensma Gene Therapy
Novartis Under Scrutiny as Nine Tumor Cases Reported in Zolgensma SMA Patients (BioXconomy)
Zolgensma Gene Therapy Link to Tumor Risk ‘Will Change the Calculus’ (STAT News)
https://www.statnews.com/2026/11/06/novartis-zolgensma-gene-therapy-tumor-risk/
SMA Gene Therapy and Cancer Risk (FirstWord Pharma)
https://firstwordpharma.com/story/8364135
Positive Phase 3 IDEAL Study Results Further Support Livdelzi’s (Seladelpar) Impact on Achieving ALP Normalization Goals in Second-Line Treatment of PBC
IQIRVO Late-Breaking Data Raises Ambitions in PBC with More Than 85% of Patients on Treatment Achieving ALP Normalization
ANI Pharmaceuticals Announces Offer to Acquire Egetis Therapeutics
ANI Pharmaceuticals Announces ~$560M Recommended Cash Offer to Acquire Egetis Therapeutics (PharmaShots)
https://pharmashots.com/37269/ani-egetis-560m-cash-offer-emcitate