Our Science

Matching the best treatment to each disease

In developing much-needed therapies for patients with serious rare and ultra-rare genetic diseases, we match the best treatment modality to each disease – whether traditional biologics, small molecules, gene therapies, or nucleic acid therapies (ASO/mRNA). With an approach grounded in established science, learning directly from patients, and utilizing our significant rare disease drug development expertise. We have built a diverse portfolio of approved and investigational therapies aimed at addressing diseases with no approved treatment options.

Traditional Biologics

Crysvita® (burosumab-twza) is a traditional biologic approved in the U.S. for X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO).

Mepsevii® (vestronidase afla-vjbk) is the first and only enzyme replacement therapy approved in the U.S. for MPS VIII.

UX143 (setrusumab) is an investigational anti-sclerostin fully human monoclonal antibody for the treatment of osteogenesis imperfecta.

Small Molecules

Dojolvi® (triheptanoin) oral liquid, a substrate replacement therapy, is a small molecule drug approved in the U.S. for the treatment of long-chain fatty acid oxidation disorders (LC-FAOD).

Gene Therapy

For certain rare genetic diseases, gene therapy offers the potential for a one-time treatment that could have a significant impact on patients’ lives. At Ultragenyx, we have developed one of the largest gene therapy portfolios, which leverages our expertise in adeno-associated virus (AAV), widely considered an ideal vector for gene therapy.

We have a robust clinical pipeline of active gene therapy programs, as well as some undisclosed programs in early research:

  • DTX401, an AAV8 gene therapy, advancing to a Phase 3 clinical trial for the treatment of glycogen storage disease type Ia (GSDla)
  • DTX301, an AAV8 gene therapy, advancing to a Phase 3 clinical trial for the treatment of ornithine transcarbamylase (OTC) deficiency
  • UX701, an AAV9 gene therapy, in a seamless Phase 1/2/3 study for the treatment of Wilson disease
  • DTX201, an AAVhu37 gene therapy, in Phase 1/2 development by our partner Bayer for the treatment of hemophilia A

With our clonal Producer Cell Line (PCL) technology, we have established a new manufacturing system that can produce AAV vectors with increased efficiency and lower material costs than traditional methods, and at a scale that can help meet the rising demands of today’s gene therapy landscape. We are building a gene therapy manufacturing facility in Bedford, Massachusetts, to provide us with a flexibility and control of process that can further optimize the clonal PCL platform, ultimately broadening our future partnerships and advancing our own gene therapy pipeline.
Learn more about our gene therapy platform

Nucleic Acid Therapy (ASO/mRNA)

Nucleic acid (ASO/mRNA) has unique properties that allow us to tackle diseases that are untreatable with other modalities. For certain diseases, nucleic acid is the best option to successfully develop a therapeutic. It can be delivered in a lipid nanoparticle to express a functional protein.

UX053 is an investigational mRNA therapy encoding glycogen debranching enzyme encapsulated in a lipid nanoparticle (LNP) designed to provide the deficient protein in GSDIII.

GTX-102 is an investigational ASO therapy in development for the treatment of Angelman syndrome.