Emil Kakkis, MD, President and Founder of Ultragenyx Pharmaceutical Inc., discusses the company’s mission and how the company approaches treatment development for rare diseases like Mucopolysaccharidosis VII.

The goal of Ultragenyx is to develop treatments for rare and ultra-rare diseases. As Dr. Kakkis explains, one obstacle for the development of treatments for rare diseases is the small prevalence rates. He notes that having a small patient pool spread across the globe can cause said patients to feel isolated. For example, when Ultragenyx was developing vestroinidase alfa-vjbk (Mepsevvi) – a now approved treatment for MPS VII – they found that many MPS patients were unaware of treatment options that were available at the time due a lack of connection to the MPS community. Therefore, Dr. Kakkis stresses that building patient relationships is often part of the treatment development process.

A second obstacle that arises from small prevalence rates in the treatment development process is the impact on clinical trials. Clinical trials for potential rare diseases have to be carefully designed to suit a small patient pool. During the development of vestroinidase alfa-vjbk, for example, a small titration program was developed to determine correct dosage. A novel analysis tool was also used that was more powerful for very small populations. 

Along with vestroinidase alfa-vjbk, Ultragenyx has two other approved therapies: burosumab (Crysvita) for the treatment of X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO); and triheptanoin (Dojolvi) for the treatment of long chain fatty acid oxidation disorders (FAOD). In addition, Ultragenyx also has two gene therapies currently in phase 2 of drug development: DTX 301, an investigational AAV gene therapy for the treatment of ornithine transcarbamylase (OTC) deficiency; and DTX 401, an investigational AAV gene therapy being developed for the potential treatment of glycogen storage disease type 1a (GSDIa).

To stay up to date with latest research in rare neurological disorders, sign up for our weekly newsletter.


  • Sign up
Lost your password? Please enter your username or email address. You will receive a link to create a new password via email.
We do not share your personal details with anyone.