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 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 2016, and to be conducted in multiple sites in Europe and the US. It is expected the trial will treat between 15 and 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. 


The program is currently on hold. In a statement, UniQure announced it was reevaluating its options for the gene therapy programs targeting Sanfilippo B, including partnering opportunities. The data on all four patients in the study is expected to be available for presentation in the first quarter of 2017. 


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, researchers at Nationwide Children’s Hospital in Ohio and Abeona. Initially funded by international patient groups, including the Sanfilippo Children's Foundation, Abeona recently merged with PlasmaTech Biopharmaceuticals Inc. in 2015 (but remains called Abeona), and as result has strengthened its position as a leader in the development of gene therapy treatments for MPSIII.

Patients on the clinical trial will be 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.


The trial has started in the USA with the first patient treated (May 2016). Four patients have now been treated (3 low-dose and 1 high-dose) as of March 2017.


Dr Kevin Flanigan presented promising preliminary data from two children in the study  (at 6 months after receiving low-dose of the therapy) at the 2017 WORLDSymposium. Read more here


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

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



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

Following successful pre-clinical testing of a gene therapy approach for the treatment of Sanfilippo Type A carried out by Fàtima Bosch and her team at the Universitat Autònoma de Barcelona (UAB), pharmaceutical company Esteve is currently in the planning stage of a human clinical trial Phase I/II. The gene therapy product has received orphan drug designation from the FDA (Foods & Drug Administration) in the US and the European Medical Agency (EMA).


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.


Esteve expects to start its clinical trial in Q3 2017.


For more information, visit Esteve's Sanfilippo program


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


This trial involves gene therapy using an AAV9 vector delivered to the brain intracerebrally by a neuro-surgical procedure. A Natural History Study (NHS) is currently underway in the USA. 


The Sanfilippo Children's Foundation is contributing $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 five years . You can read more about our Foundation's contribution 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.