Small Business Innovation Research (SBIR) Small Business Technology Transfer (STTR)
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Anupam Pathak

"An SBIR grant led to the production of a therapy that is now treating children in the United States, and we should all be proud of that."

– Emil Kakkis, M.D., Ph.D., President and Chief Executive Officer, Ultragenyx Pharmaceutical Inc.

MPS VII is a mucopolysaccharide disease also known as Sly Syndrome. Patients with MPS VII are missing the enzyme beta-glucuronidase, which is essential to breaking down the mucopolysaccharides heparan sulfate, chondroitin 4-, 6-sulfates, and dermatan sulfate. These materials remain stored in the body’s cells, causing progressive damage like an enlarged liver, spleen, heart valve abnormalities, frequent upper respiratory infections and sleep apnea. Although this is a neonatal disease, babies may show few signs or symptoms, but as cells sustain damage, symptoms start to appear, such as a large head, buildup of brain fluid, a large tongue, and other distinctive facial features. The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some carriers do not survive infancy, while others may live into adolescence or adulthood, with heart disease and airway obstruction being the major causes of death.

Ultragenyx came about to meet the need for treatments for “ultra-rare” diseases—understood as affecting fewer than one patient per 50,000 people. Treatments for ultra-rare diseases have not come about as frequently as treatments for more common rare diseases, despite the existence of substantial data in animal models, as was the case for MPS VII and Dr. Sly’s lab work. The company was formed to work on translating these ideas for ultra-rare populations into approved treatments. The disease MPS VII is a devastating multi-system lysosomal storage disorder; the product developed—the recombinant glucuronidase—would serve as a replacement enzyme therapy, and is currently the only FDA-approved treatment for MPS VII.

 
This is an image of a Mepsevii.

Vial of MEPSEVII™

Ultragenyx came about to meet the need for treatments for “ultra-rare” diseases—understood as affecting fewer than one patient per 50,000 people. Treatments for ultra-rare diseases have not come about as frequently as treatments for more common rare diseases, despite the existence of substantial data in animal models, as was the case for MPS VII and Dr. Sly’s lab work. The company was formed to work on translating these ideas for ultra-rare populations into approved treatments. The disease MPS VII is a devastating multi-system lysosomal storage disorder; the product developed—the recombinant glucuronidase—would serve as a replacement enzyme therapy, and is currently the only FDA-approved treatment for MPS VII.

Phase I & II SBIR Funding

When originally at BioMarin, Dr. Kakkis applied for funding through a Fast-Track application exit disclaimer iconand was awarded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)exit disclaimer icon on the first attempt. According to Principal Investigator, Emil Kakkis, the SBIR grant was critical in funding the development of a production cell line, testing it, and developing a production process for both cell culture and purification. Though further changes occurred during research and development, the final process was fundamentally supported using the data produced from the SBIR grant. Building on this data, the prospective treatment moved from inception to nonclinical studies and then to human trials within a total of two years. SBIR funding proved to be especially crucial in evaluating how to manufacture this enzyme therapy, which is expensive to produce. This was critical in accelerating the timeline for later development work.

Building a Solid Team

Building a dedicated team can be a challenge in startups, especially when looking for players who have the scientific and business expertise to support your project. Ultragenyx was able to assemble a unit of employees with considerable experience in rare disease companies, and could operate with minimal assistance or supervision, to complete the project in a way that was time- and cost-effective. At the time the grant was awarded, less than 20 people touched the program; today, 50-100 people are working on MPS VII.

Supply and Demand Challenges in Commercialization

As the company forges ahead with commercialization of this treatment, the challenges are less about a competitive market and more about the lack of awareness and demand. The Ultragenyx team focuses on building awareness among doctors who have patients in need of the therapy, rather than on a traditional sales strategy.

Ultragenyx will not pursue any further SBIR funding, as the company no longer qualifies for small business grants. Dr. Kakkis believes in what federal SBIR/STTR funding can do for other small businesses in the biotech space. He notes that the grant came at the right time and was the right size for his mission, adding, “It was a really good program for us at the time, and it’s a very important bridge for families trying to find drugs to help their children.”

 
Patient

First patient to receive MEPSEVII™ (vestronidase alfa-vjbk) as a commercial product after its FDA approval

Location: Novato, CA

Company Website: http://www.ultragenyx.com/ exit disclaimer icon

Contact: info@ultragenyx.comexit disclaimer icon

Information for this success story was gathered through an interview with Dr. Emil Kakkis, that was conducted by Patricia Swayne, the NIH SBIR/STTR Communications Coordinator.

 

Sources:
Mucopolysaccharidosis type VII - Genetics Home Reference. (2018, March 27). Retrieved March 05, 2018, from https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-viiexit disclaimer icon

MPS VII. (n.d.). Retrieved March 07, 2018, from https://mpssociety.org/learn/diseases/mps-vii/exit disclaimer icon

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