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  • Writer's picturerevs4rett

Making Connections like Viral Vectors

Updated: Jun 26, 2019

As we continue to research about Rett Syndrome and how to manage our daughter’s care, Ross and I watched a video on a new ground breaking treatment in the form of gene therapy.

"With cutting-edge technology, we are making progress in the treatment of rare and life-threatening neurological genetic diseases". -Avexis

Avexis, a Novartis company has found a way to deliver gene therapy to patients with Rett Syndrome. By means of a virus! When the virus gets modified it’s called a vector. Vectors connect to cells and can deliver the manufactured MECP2 gene in hopes of replacing the mutation. A single dose of the product, AVXS-201, is injected into the patient’s cerebral spinal fluid or by intravenous where it directly goes to work delivering the gene into the nucleus of the cells. As with any clinical trial we need proof that the experimental treatment will work in humans the same way as it did in mice testing. In theory, it sounds like the cure we have all been waiting for! But for now, we wait patiently for the FDA to inspect and approve this concept and pray for good results with the early phase testing.

With the thought of a cure on the back burner, an opportunity crossed my path that I couldn’t resist to tackle. While attending a conference, "A Rare International Dialogue", held by Canadian Organization Rare Disorders (CORD), I noticed that gene therapy in rare diseases was on the agenda. I quickly made my way over to the session where I took the opportunity to introduce myself to the Executive Medical Director at Avexis, Dr. Susan Manganaro. After explaining Ella's diagnosis and the need for Canadians to have access to the gene therapy clinical trials, we exchanged contact information in hopes to establish sites in Canada. I'm pleased to announce we are planning our first call with Dr. Bryan McGill and the President of the Ontario Rett Syndrome Association, Kevin Morton, is the next week or so. I will keep you posted on the progress. Fingers crossed!


Our first conference call was a total success! People at Avexis are excited and optimistic for the chance to help improve the lives of so many effected with Rett Syndrome. Canadian sites will receive an letter of interest to conduct the trial. The trial has been registered under a new investigation product (IND) and is awaiting FDA approval. It will be a Phase I/II looking at the safety and dose levels.

For more information on clinical trials visit-

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