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 MPSIII A were administered a gene therapy product directly into the brain. The neuro-surgical procedure entails intra-cerebral administration of AAV (Adeno-Associated Viral) vector carrying a healthy copy of the SGSH gene.


The Phase I/II trial concluded with excellent safety results and promising indicators of efficacy. Since then, Lysogene has obtained orphan drug designation for its product from the FDA (Foods & Drug Administration) in the US and the European Medical Agency (EMA).  They have also secured major venture capital to fund further trial phases, a positive indicator that the treatment shows promise. The company is currently working towards its phase III clinical trial, currently planned to start in 2017, and to be conducted in multiple sites in Europe and the US. It is expected the trial will treat between 20 MPSIII A patients, and Lysogene plans to conduct in parallel a natural history study in selected sites in Europe.  They hope to commercialise their product by 2019-20 and are also looking at treatments for other rare diseases affecting the CNS. 


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 study 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; ABX-A and ABX-B, 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. Nine patients have now been treated at sites in the USA, Australia and Spain (as of November 2017). Patients on the clinical trial are administered the gene therapy product intravenously using an AAV9 (Adeno-Associated Viral serotype 9) vector, which has the ability to cross the Blood-Brain-Barrier.


Encouraging results were reported in October 2017 from the first three patients, one year after treatment. Heparan sulfate, a molecule that accumulates to toxic levels in children with Sanfilippo, was shown to be reduced in the cerebrospinal fluide (CSF) and urine in the treated children. Their liver volumes also reduced and there was stablisation of neurocognitive assessment scores. Read more here 


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. Read further information about the MPSIIIB trial here.


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 opporunity to access this emerging treatment.


Read more about Abeona and the ABX-A and ABX-B program:



Esteve & Autonomous University of Barcelona (Spain) / Sanfilippo Type A

Pharmaceutical company Esteve is currently recruiting for a human clinical trial Phase I/II study due to evaluate a new gene therapy medicinal route to patients with Sanfilippo Syndrome Type A.


Patient recruitment is beginning. The study, sponsored by the Laboratorios Esteve company, and will be conducted in the Children’s Hospital]San Juan de Dios of Barcelona Spain under the management of Dr. M. Pineda as principal investigator and Dr M. O'Callaghan.


Visit the EU Clinical Trials Register here


Principal Investigator: 

Dra Mercé Pineda / M.O’Callaghan

Consultor senior Neuropediatria - Unidad de Ensayos C´linicos

Hospital Sant Joan de Deú

Barcelona. Spain



The treatment approach consists of a single surgical intervention in which an AAV9 (Adeno-Associated Viral serotype 9) vector carrying a healthy copy of the SGSH gene is injected into the cerebrospinal fluid. The virus genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, where it continues to induce production of the enzyme.


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.