Abeona Therapeutics (now ULTRAGENYX) Gene Therapy Program

The Sanfilippo Children’s Foundation's first major investment in research was AUD $450,000 into Abeona Therapeutics in 2015. This led to the opening of a gene therapy clinical trial site in Adelaide and has given Australian children the opportunity to gain early access to a potential treatment.

The gene therapy trial for Sanfilippo type A started in the USA in May 2016 and the first Australian patients were treated at Adelaide’s Women’s and Children’s Hospital in 2017. There is also a clinical trial site in Spain.

In 2022, this gene therapy programme was taken over by another biotech company, Ultragenyx. Ultragenyx will complete the clinical trial of this AAV9-based gene therapy treatment for Sanfilippo type A and, dependent on the trial outcomes, will seek regulatory approval for the treatment.

For up-to-date information on this trial and other Sanfilippo clinical trials, please go to our webpage 

Abeona Therapeutics:

  • Abeona Therapeutics is a US-based biotech company developing gene therapy-based treatments for epidermolysis bullosa and retinal eye diseases.

  • Abeona initiated the Sanfilippo Type A & B programs in close collaboration with specialist clinicians at Nationwide’s Hospital (Columbus, Ohio) with strong international support from multiple patient organisations (Spain, Canada, US, Switzerland, Mexico, Argentina, Australia)

  • In 2022, Abeona handed the Sanfilippo type A gene therapy programme over to Ultragenyx and terminated its type B program


  • Ultragenyx is a US-based biotech company with a strong track record in developing and marketing treatments for rare and ultra-rare conditions

  • Ultragenyx’s portfolio includes medicines for X-linked hypophosphatemia; long-chain fatty acid oxidation disorders; and Mucopolysaccharidosis VII (Sly syndrome).

  • They have a pipeline of seven other therapies in pre-clinical and clinical development including UX111, an AAV9-based gene therapy for Sanfilippo type A (formerly known as ABO-102)


For further information on this program, contact:

Patient Advocacy, Ultragenyx
Phone: +1 415.483.8800
Email: patientadvocacy@ultragenyx.com

For information for clinicians/ families on the Australian arm of this program, contact: 

Louise Jaensch

Research Nurse
SA Health Australia 
Phone: +61 08 81617295
Email: Louise.Jaensch@sa.gov.au