Dialog Box


Gene Therapy 


Lysogene SAF-302 (France) / Sanfilippo Type A

Lysogene was founded by Karen Aiach, mother of a Sanfilippo Type A child in Paris, France. Lysogene is focused on finding treatments for rare genetic disorders affecting the Central Nervous System (CNS) using gene therapy technology. In 2013, Lysogene successfully completed a Phase I/II clinical trial for its gene therapy product SAF-301: four children affected by Sanfilippo Type A were administered a gene therapy product directly into the brain. This involved surgery to inject virus (AAVrh10) carrying a healthy copy of the SGSH gene directly into the brain (intra-cerebral injection).

The Phase I/II trial concluded with excellent safety results and promising indicators of efficacy. Some alterations have been made to the gene therapy product, now named LYS-SAF302, and recruitment for a Phase II/III trial has begun. It is expected the trial will recruit 20 Sanfilippo Type A patients, more details of the trial are available here.


Read more about Lysogene and their MPSIII A therapy program:


Institut Pasteur (France) UniQure / Sanfilippo Type B

In 2013 the Pasteur Institute in France completed treatment of 4 patients with Sanfilippo Type B as part of a phase I/II clinical trial for a gene therapy product. This trial involved an AAV10 vector delivered to the brain intracerebrally by a neuro-surgical procedure, and is similar in its approach to the Lysogene treatment, but focused on Type B. 


A recent publication in Lancet Neurology found that the gene therapy trial involving four children with Sanfilippo Type B resulted in sustained enzyme production and improvements in neurocognitive functions.


Unfortunately, the program is currently on hold. In a statement, UniQure announced it was revaluating its options for the gene therapy programs targeting Sanfilippo B, including partnering opportunities.


Read the UniQure statement here

Abeona Therapeutics (USA) / Sanfilippo Types A and B

Abeona Therapeutics is a biotech formed specifically to develop two products; ABO102 and ABO101, for the treatment of Sanfilippo subtypes A and B.  The program is building on successful pre-clinical studies conducted by Drs Fu (Type B) and McCarty (Type A) at the Nationwide Children's Hospital in Columbus, Ohio. 


The program is the result of a unique collaboration between patient groups and researchers at Nationwide Children’s Hospital in Ohio together with Abeona. The phase I/II trial was funded by international patient groups, including the Sanfilippo Children's Foundation.


The trial started in the USA in May 2016.  Ten patients with Sanfilippo Type A have now been treated at sites in the USA, Australia and Spain (as of February 2018) at one of three different doses. Patients on the clinical trial are administered the gene therapy product intravenously (into the blood stream). The gene therapy consists of a virus (AAV9) which has the ability to cross the Blood-Brain-Barrier to deliver a healthy copy of the gene that is faulty in Sanfilippo Types A and B.


Encouraging results were reported in February 2018 at the WORLD Symposium. The gene therapy continues to be safe and tolerable and reductions in heparan sulfate, the toxic substance that builds up in children with Sanfilippo, have been seen in both the urine and the cerebral spinal fluid (CSF). The liver, which is enlarged in children with Sanfilippo, was also reduced at all three doses.


Information on the effect of the high dose on cognitive function is not yet available but the trial continues to show encouraging signs of stabilisation in some of the cognitive tests in some of the children treated at the lower doses. Abeona plans to recruit another four to five patients in this phase 1/2 trial and are planning a further trial to treat more patients.


There are three trial sites: US, Spain and Australia. Please see eligibility criteria on details Clinical trials details (NCT02716246)


The Sanfilippo Type B gene therapy trial was initiated in the third quarter of 2017 and is recruiting by invitation in the USA. As of February 2018 one patient with type B had been treated and showed similar initial results to the type A trial with significant increase in enzyme activity in the blood and reduction in in heparan sulfate in both the urine and the cerebral spinal fluid (CSF).

In October 2017 nine global Sanfilippo foundations including the Sanfilippo Children's Foundation agreed to provide funding for a phase 1b clinical trial of Abeona's gene therapy for Types A and B. This will secure an Australian site for the phase 1b trial which is expected to start by mid-2018 and give more Australian children the opportunity to access this emerging treatment.


Read more about the Abeona gene therapy trials :



Esteve & UAB (Universitat Autònoma de Barcelona)Autonomous / Sanfilippo Type A

Pharmaceutical company Esteve is currently recruiting for a Phase I/II clinical trial in Bercelona due to evaluate a new gene therapy for Sanfilippo Type A.


The treatment approach consists of a single injection into the cerebrospinal fluid of a virus (AAV9) carrying a healthy copy of the SGSH gene fluid (Intracerebroventricular (ICV) injection). They plan to recruit six patients for this initial clinical trial.


Esteve is also developing a similar gene therapy approach for Sanfilippo type B, but this is not yet in clinical trial.

For more information, visit Esteve's Sanfilippo program


University of Manchester / H.A.N.D.S Consortium (US and Europe) / Sanfilippo Type C


Research led by Dr. Brian Bigger at the Univeristy of Manchester is working towards a gene therapy clinical trial for Sanfilippo Type C.  This approach involves gene therapy using an AAV vector delivered to the brain intracerebrally by a neuro-surgical procedure.


The Sanfilippo Children's Foundation contributed $90,000 towards this research project which will focus on the best way to deliver gene therapy to the brain for Sanfilippo Type C in preparation for a clinical trial, which if all goes well, could start within the next two to five years. You can read more about our Foundation's contribution and this completed project here


This gene therapy program is also being funded and driven by the H.A.N.D.S. Consortium, made up of international Sanfilippo medical research Foundations including Jonah's Just Begun, JLK- Sanfilippo Research Foundation, Sanfilippo Barcelona, Sanfilippo Sud, Sanfilippo Portugal and Levi's Life, Love and Laughter.