Ultragenyx, a Rare Disease Powerhouse in Less Than 15 Years

Focused on rare and ultra-rare genetic diseases, Ultragenyx identifies itself as the industry’s most productive company working in the field of high un-met need diseases. With no fewer than four products approved across five indications, a blockbuster therapy that reached 2023 revenues of USD 328 million, and six candidates in late-stage studies, the claim could be justified.

Flexibility and Speed

Founded by paediatric geneticist and current president and CEO Emil D. Kakkis in 2010, Ultragenyx was created with the idea it defines as “designing a novel development model that fundamentally changed the established paradigms in clinical protocols … as well as challenging traditional beliefs around commercialization and access.”

With these innovative approaches, the California-headquartered biotech takes pride in the speed with which it has been able to bring four therapies forward in the space of under 15 years. “Since its establishment, the company has become the most productive rare disease company in the industry,” confirms Nicolas Linares, VP and GM, Ultragenyx Mexico and Central America in a recent PharmaBoardroom interview.

According to Linares, behind this prolific output is an inherent adaptability. “Ultragenyx’s approach to treatment development is distinguished by its flexibility in using the most suitable modality for each disease. We work with various platforms, including monoclonal antibodies, enzyme replacement therapies, small molecules, and gene therapy.”

“Our approach has led to the delivery of multiple first-ever rare disease treatments at a faster speed than the industry average.” To prove this, the biotech compares itself to rare disease trailblazers like BioMarin and Genzyme, demonstrating that it has exceeded these companies in product approvals since IPO by one and two years respectively.

Key Partnerships

An additional strong point for Ultragenyx has been its ability to identify important partnership opportunities and seize the potential of other biotechs. One such alliance is with Kyowa Hakko Kirin, who discovered the recombinant fully human monoclonal IgG1 antibody Crysvita that reached FDA approval in 2018 for x–linked hypophosphatemia (XLH) and for tumour-induced osteomalacia (TIO) in 2020.

Another essential collaboration agreement is with Mereo Biopharma for an osteogenesis imperfecta treatment, which is currently in phase III trials. The company’s partnership with GeneTx for a rare neurogenetic condition known as Angelman syndrome, which dates back to 2019, led the biotech to acquire its partner for USD 75 million in 2022, in order to grab hold of the asset.

In an additional example, thanks to the strategic acquisition of Dimension Therapeutics in 2015, Ultragenyx earned the gene therapy manufacturing capabilities it later capitalized on through a USD 200 million deal with Daiichi Sankyo for its gene therapy manufacturing platform Ultragenyx HeLa.

Reaching Rare Disease Patients

Yet another area where Ultragenyx looks to set itself apart is in its commercial model. “The key to success for any rare disease business, and it has been the key for us, is the ability to identify and confirm diagnosis of rare disease patients,” said Chief Commercial Officer Erik Harris about the commercial rollout of Crysvita. “What you find with rare disease launches is they often stall after the first year or so because of the inability to find patients.”

What this has meant for the company is locating and contacting affected patients, initially through the centres where they are treated. While this method of reaching patients is effective, it is not always straightforward, as Mexico and Central America VP Linares underlines. “Addressing the challenges of rare disease diagnosis in Mexico requires a multifaceted approach. One of our primary efforts has been to raise disease awareness and ensure that clinicians are equipped to identify and refer patients,” he asserts. “Another critical gap we are addressing is the lack of molecular diagnostic testing, which is essential for confirming rare disease diagnoses. Through public-private partnerships, we support diagnostic testing services to fill this void.”

New Markets

Ultragenyx has also pushed for global expansion to make its therapies available in regions beyond the US and Europe, and LatAm is an excellent example. “The decision to expand into Latin America, particularly Mexico, was primarily driven by the unmet medical needs in the region. One of the early indicators of this need was the involvement of Mexican and Brazilian patients in our clinical trials,” says Linares.

“While there are undoubtedly regulatory challenges and market access hurdles in the region, the opportunity is undeniable,” he confirms.Mexico has in fact become the only country in the world where Ultragenyx ‘s four launched medicines are commercially available.