Rare Disease Report

First Patient Given Gene Therapy for Sanfilippo Syndrome Type A

MAY 17, 2016
James Radke, PhD

Abeona Therapeutics announced the first patient in a Phase 1/2 trial for ABO-102 (AAV-SGSH), a single treatment gene therapy strategy for patients with Sanfilippo syndrome type A (Mucopolysaccharidosis Type IIIA) has been given the therapy at Nationwide Children's Hospital (Columbus, Ohio).


This announcement comes one week after Orchard Therapeutics announced they are working with the University of Manchester to develop a stem cell gene therapy.

What is Sanfilippo Syndrome

Children with Sanfilippo syndrome have inadequate levels of specific enzymes needed to metabolize heparan sulfate. This leads to a build up of heparan sulfate in lysosomes that in turn leads to progressive neural degeneration.

There are 4 types of Sanfilippo syndrome based on the specific enzyme that is affected.

  1. Sanfilippo Type A: heparan N-sulfatase.
  2. Sanfilippo Type B: alpha-N-acetylglucosaminidase.
  3. Sanfilippo Type C: acetyl-CoAlpha-glucosaminide acetyltransferase.
  4. Sanfilippo Type D: N-acetylglucosamine 6-sulfatase.

Abeona’s gene therapy is directed toward Sanfilippo type A.

What is ABO-102 Gene Therapy

ABO-102 is an adeno-associated viral (AAV)-based gene therapy for Sanfilippo syndrome type A. It is designed to be a one-time delivery of a normal copy of the defective gene to cells of the central nervous system (CNS).


In animal models, a single dose of ABO-102 induced cells in the CNS and peripheral organs to produce the missing enzyme and repaired the underlying cell pathology that is the cause of the disease. Also in animal studies, a single dose of ABO-102 significantly restored normal cell and organ function, corrected cognitive deficits, increased neuromuscular function and normalized the lifespan of animals with MPS IIIA over 100% for more than one year after treatment compared to untreated control animals.

The first patient

In a facebook posting, the parents of the first child wrote


Whew….deep breath…


The First patient treated! It is with great humility and joy that we share with you that our daughter Eliza was treated several days ago with this experimental one-time intravenous gene therapy, the first of its kind in the world for Sanfilippo! The next child will be enrolled soon, and more will follow. We have so much THANKS to the so many people who made this happen and the many years of hard work, much of it long before Eliza was diagnosed. Thank you to all of the Sanfilippo families fighting for a cure. THANK YOU to our army of supporters around the world for ‪#‎SavingEliza & Cure Sanfilippo Foundation that helped push this along and for your continued unwavering support!


While we can’t disclose any trial details, Eliza is doing just fine and we watch her closely. The team at Nationwide Children's Hospital was incredible and caring and kind to our family & Eliza…we thank the doctors, researchers, clinical trial staff, nurses and the chaplain.


For our followers and supporters, we are thrilled to report these tangible results of the trial starting! Every bit of your support mattered and is helping save children’s lives. A huge step forward, and we hope this is the beginning of the end of Sanfilippo.


As Eliza’s parents, we are thrilled that she is getting this chance, but immediately our thoughts go to the so many Sanfilippo children around the world. These trials will only treat a handful of patients, and the many many other children with Sanfilippo who aren’t included into this trial don’t have time to wait. With your continued support, we can help give more kids a similar chance as Eliza.


Thank you with every bit of love we have in our hearts!! You did it! J From the O’Neill Family. www.CureSFF.org ‪#‎CureSanfilippo Foundation


PS – Please share this great news and stay tuned for future updates coming soon to help spread more awareness for our cause to Cure Sanfilippo

Quotable quotes

"MPS IIIA is a profound and deadly lysosomal storage disease with no approved treatments available. Caused by a single gene defect, most of the children with this disease do not reach adulthood. This investigational gene therapy approach, delivered as a single intravenous injection to treat the whole body, represents a new treatment paradigm for addressing this relentlessly progressing disease," noted Kevin M. Flanigan, MD, principal investigator with the Center for Gene Therapy at Nationwide Children's Hospital and Professor of Pediatrics and Neurology at The Ohio State University College of Medicine. "We are grateful to the many patient foundations and parents who have supported the research needed to advance a potential treatment for this devastating unmet medical need."


"This treatment trial is the culmination of more than eighteen years of research and development, and none of it would have been possible without support from the Sanfilippo foundations," say Drs. Haiyan Fu and Doug McCarty, who lead the lysosomal disease basic research program in the Center for Gene Therapy.


"Abeona has demonstrated global leadership in supporting clinical and commercial development of promising gene therapies for children with Sanfilippo syndrome, and we applaud their efforts to bring these potential treatments to clinical trials," said Kathleen Buckley, President of Team Sanfilippo.


"This first-in-man gene therapy, which uses an AAV delivered by a single intravenous injection to treat the central nervous system and the peripheral disease manifestations in Sanfilippo patients, helps advance the field of gene therapy with new treatment options for these devastating diseases," noted Timothy J. Miller, PhD, Abeona's President and CEO.

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