Dialog Box


Abeona gene therapy trial news – first Australian treated and new higher dose

October 12, 2017

On October 11, 2017 it was announced that two children with Sanfilippo Type A had been treated in
the Abeona gene therapy trial at a new higher dose. This is the third dose tested in the trial with
children previously being treated at lower doses. Encouraging results* have
been seen in all the treated children with a more pronounced effect in the higher the dose, and no
safety concerns*. For more detail

It is still very early, but 30 days after the first child received the high dose of gene therapy, the
trend is continuing with large reductions in heparan sulfate in the cerebral spinal fluid and urine and
the liver notably reducing in size. Children with Sanfilippo have enlarged livers and heparan sulfate is
the damaging sugar molecule that accumulates in the cells, which is particularly damaging in the

Experience from gene therapy trials for other similar conditions has suggested that treatment
outcomes will be improved by earlier intervention, at the highest possible tolerated doses.
One of the children who received the new higher dose was treated at Adelaide Women’s and
Children’s Hospital and the other was at Nationwide Children’s Hospital in the US. Patient screening
is also underway at a site in Spain.


" We are pleased to initiate our enrolment in the ABO-102 trial,” stated Nick Smith, M.D., Ph.D,
Principal Investigator and Department Head of Neurology at the Adelaide Women’s & Children’s
Hospital in Australia.


Founder and executive director of the Sanfilippo Children's Foundation, Megan Donnell: "I am thrilled by this progress which sees Australian children have the same opportunity to access emerging therapies as their counterparts in the US and Europe, and thankful that we have such a strong clinical team here running this program."

About the trial
The Abeona Therapeutics gene therapy program is a whole-body treatment approach using an
intravenously delivered adeno-associated virus (AAV) gene therapy to treat paediatric patients with
Sanfilippo Syndrome Type A (MPS IIIA). The virus delivers a correct copy of the gene (SGSH) that is
altered in children with Sanfilippo.

More information about the trial is available on

Further information
- About Sanfilippo Syndrome
- Read the press release

Category: News