Keeping a little girl at home for 722 days may seem cruel, but for the O’Neill family, it was a demonstration of astonishing bravery and love.
Glenn and Cara O’Neill had isolated their daughter Eliza to protect her from viral infection – which could have disqualified her from receiving gene therapy for Sanfilippo syndrome type A (aka mucopolysaccharidosis Type IIIA or MPS IIIA). Last week, she became patient #1 in a phase 1/2 clinical trial from Abeona Therapeutics.
Sanfilippo syndrome is a lysosomal storage disease (LSD). The lysosomes are the “suicide sacs” of the cell, each housing 43 types of enzymes that dismantle specific molecules. A mutation that robs a cell of just one of these enzymes causes an LSD. The molecule that the enzyme should destroy builds up, and at the same time the molecule that would result from the enzyme’s action ebbs, like a knot in a filled garden hose causing a backup at one end and a dribble at the other.
Eliza’s brother Beckham describes his sister’s “very bad disease” in a second video: “It clogs up her brain and that makes her not learn very well. She’s hyper.” And she’s lost verbal function since the video. The condition is inherited from two carrier parents.
The gene therapy, at Nationwide Children’s Hospital in Columbus, Ohio, introduces the gene aboard an adeno-associated virus (AAV9) vector as a one-time intravenous injection. Results in mice were striking: the single shot reached the central nervous system as well as the periphery, and restored cognition, improved movement, and greatly extended lifespan.
“MPS IIIA is a deadly lysosomal storage disease with no approved treatments. Most children do not reach adulthood. This investigational gene therapy approach represents a new treatment paradigm for addressing this relentlessly progressing disease. We are grateful to the many patient foundations and parents who have supported the research needed to advance a potential treatment,” said Kevin Flanigan, MD, principal investigator with the Center for Gene Therapy at Nationwide Children’s Hospital and Professor of pediatrics and neurology at Ohio State University College of Medicine, in a news release.
Here’s what Eliza’s dad posted on Facebook two days ago:
“Treated! Announcement. 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!“
I think we’ll be hearing many more gene therapy success stories in the coming years.