Sanfilippo Type A gene therapy ABO-102 program will continue, Ultragenyx acquires rights

May 17, 2022

Funding, endpoints, and more continue to make the road difficult in reaching an approved therapy for Sanfilippo Syndrome (MPS III). Over the years, including recently, clinical trials for Sanfilippo Syndrome were discontinued for these many reasons. Which makes today’s announcement by Ultragenyx about the Gene Therapy ABO-102 for Sanfilippo Type A a heartening moment for the Sanfilippo community.

Ultragenyx announced that it has acquired global rights to AAV Gene Therapy ABO-102 for Sanfilippo Syndrome Type A (MPS IIIA) from Abeona Therapeutics.

Ultragenyx is assuming responsibility for the ABO-102 program, which began treating children with Sanfilippo Syndrome in 2016.

“Based on promising data from Abeona’s clinical program, regulatory feedback to date, and our experience developing treatments for other MPS diseases, we believe ABO-102 has the potential to be a transformative therapy for patients with MPS IIIA,” said Emil Kakkis, MD, PhD, Chief Executive Officer and President of Ultragenyx said in a press statement. “Our team’s expertise in MPS and gene therapy clinical development makes this program a seamless integration, and it has the potential to be our first gene therapy to market. The Sanfilippo community has been waiting too long for a first treatment and we believe we can help accelerate this program.”

“Data from the ongoing Transpher A trial demonstrate ABO-102 holds significant potential to improve outcomes for patients with MPS IIIA who experience relentlessly progressing neurodevelopmental and physical decline that is life-threatening at a very young age,” said Vish Seshadri, Ph.D., Chief Executive Officer of Abeona in the statement about Ultragenyx acquiring the Gene Therapy ABO-102 project. “We believe that Ultragenyx, with deep expertise in rare, genetic, metabolic lysosomal storage disorders and a demonstrated commitment towards MPS diseases, is the ideal partner to eventually bring ABO-102 to patients.”

“We are thrilled to see this program advance with the help of Ultragenyx Pharmaceutical Inc. and Emil Kakkis. This program and its origins at Nationwide Children’s Hospital and Abeona Therapeutics Inc. are very personal to our family,” said Cara O’Neill, MD, FAAP, Chief Science Officer for Cure Sanfilippo Foundation. “It’s hard to look back sometimes … but 6 years ago today, we were in the hospital in Ohio where our sweet daughter Eliza was the first human to receive this experimental therapy. Her bravery and those of the other children in the early cohorts allowed the science to advance to where it is today. Without them we would not have been able to see the exciting results in the youngest children at the highest dosing level. Please let us always remember the hope and sacrifice made by children and families who participate in trials and those who were never given the opportunity. The urgent need to alleviate their suffering does not have an age limit.”

Eliza O'Neill - First U.S. Sanfilippo child treated with gene therapy, May 2016
The ABO-102 project was Cure Sanfilippo Foundation’s first-ever scientific grant. Glenn and Cara O’Neill created the Foundation in 2013 to accelerate the most-promising research in pursuit of a treatment or cure for Sanfilippo. The viral video Saving Eliza raised $2.1 million, which provided critical funding and support for the ABO-102 drug manufacturing, as well as ABO-101 (the Type B gene therapy) clinical trial support. Collectively these studies have been able to provide the experimental gene therapies to 39 children, as of February 2024.

Cure Sanfilippo has gone on to fund more than 30 research grants around the world which has helped three clinical trials get underway, to date, treating children with all types of Sanfilippo Syndrome.

The Foundation creates and explores innovative and breakthrough research to ensure multiple promising paths are being explored in the effort to save children and better their quality of life. Learn more about Sanfilippo Syndrome and the Foundation at


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