Ottawa family fighting for access to gene therapy for daughter with Rett syndrome

The parents of a four-year-old Ottawa girl are trying to get access to a clinical trial for her rare disorder. CTV’s Katelyn Wilson reports.

An Ottawa family says they are in a race against time to get their four-year-old daughter access to gene therapy after learning she no longer qualifies for a clinical trial.

Four-year-old Lucia Vaccaro lives with Rett syndrome, a rare neurological and developmental disorder that affects about 1 in 10,000 girls born each year. Her parents say the condition is slowly robbing her of skills she once had.

“It takes away your limbs. It takes away your speech. It can take away your ability to eat. It can take away your ability to think. You get locked in,” said her father, Joseph Vaccaro.

While there is no cure, her parents say there is hope. They say their doctor in Montreal told them in December that Lucia would be selected for a gene therapy trial led by U.S.-based company Taysha Gene Therapies.

“We were told ‘I selected Lucia. Lucia is the best candidate, and she will start getting this back and this skill back’ and we were really excited,” said her mom, Rana Vaccaro.

“For the first time in years, we were just living normal, doing normal family stuff because we were very hopeful and excited.”

But weeks later, they say they learned Lucia was no longer eligible because she was one year too old.

“The rug was pulled out from underneath us and we’re back to fighting for access to it again,” said Joseph.

Her parents say they spent years advocating for pediatric gene therapy clinical trials to come to Canada and thought they had won.

In a statement, Taysha Gene Therapies told CTV News Ottawa, “Based on robust natural history data, scientific evaluation, as well as feedback and alignment with the United States Food and Drug Administration (FDA), the Company announced in January that it is proceeding with its ASPIRE trial, which will include patients aged two to under four years with Rett syndrome. Prior to that, there was no regulator‑approved protocol in place for the study and therefore no clinical trial site locations or patients had been selected.”

Dr. Evdokia Anagnostou, who leads Canada’s first clinical trials network studying neurodevelopmental disorders, says she is aware of three companies running gene therapy trials for Rett syndrome, but only one has come to Canada.

“There are some regulatory barriers that make it harder for them to come and so we have to partner up with our governments and our regulators to make it particularly attractive for a company to want to cross the border and bring the trial here,” Anagnostou said.

The Vaccaro’s have now applied through Health Canada’s Special Access Program in an effort to get Lucia the gene therapy. Even if the request is approved, the company would still have to agree to provide it, and the cost wouldn’t be covered.

“The estimate is somewhere around one million U.S., but it’s very likely going to be a lot more,” Joseph said.

Now, with Lucia turning five next week, her parents say they are trying to raise millions of dollars while pushing for access.

“Until six, she can still be gaining skills and then she reaches the peak and from here, it’s only down,” Joseph said. “The best you can hope for is that she stays stable for as long as possible, but eventually that tumble down the mountain will happen.”

Her parents say waiting for the standard approval process in Canada could take years and they worry by then, Lucia may miss a critical window for treatment.

“It’s hell knowing that there’s a vial out there sitting in some fridge that could save her,” Joseph said. “If this doesn’t work, we’ll find another way. We’re going to keep fighting until she’s better.”

CTV News asked Taysha Gene Therapies if they would be willing to supply the gene therapy if Health Canada grants special access and what the cost may be, but the company says it’s not able to speculate.

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