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).

AAV 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 HeLa Producer Cell Line (PCL), we have established a new manufacturing platform that can produce AAV vectors with extraordinary 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 plant in Bedford, Massachusetts, to further leverage this capability and support our gene therapy pipeline.
Learn more about our HeLa 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.