October 1, 2026
We recently crossed an important fundraising milestone, and I want to begin by thanking all of the families and supporters who have helped make this possible. Every contribution—large or small—allows us to keep moving toward our shared goal: developing effective treatments for children and adults affected by IQSEC2-related disorder.
One of our major efforts right now is preparing for the first clinical trial of IQSEC2 gene replacement therapy. Together with GenTech IQSEC2, led by Vassia, and our clinical and research partners, we are part of a European consortium applying for approximately €5 million in funding through the European Rare Diseases Research Alliance (ERDERA). The consortium brings together teams from Spain, Germany, and Italy, with GenTech serving as the planned sponsor of the clinical program. Our proposed proof-of-concept study is designed to treat eight children with IQSEC2 gene replacement therapy.
Importantly, our plans to move toward a clinical trial do not depend entirely on receiving the ERDERA grant. Regardless of the outcome, the application process itself is proving enormously valuable. It requires us to work through, in great detail, the clinical protocol, manufacturing, regulatory requirements, patient assessments, safety monitoring, and the many other components necessary to conduct a rigorous gene therapy trial. Much of this work therefore directly advances our preparations for the trial. If necessary, we expect that foundations—including our own—will play an important role in helping fund this effort.
At the same time, we have not lost sight of an equally important goal: finding treatments for all individuals with IQSEC2-related disorder. Gene replacement is particularly well suited to certain IQSEC2 mutations, but IQSEC2 is not a single-mutation disorder. We therefore continue to develop additional therapeutic approaches for children with other types of mutations, including what we have called “Type 2” mutations, as well as approaches that may ultimately be appropriate for girls with IQSEC2 variants.
We are working with research groups around the world to expand the therapeutic “toolbox” available for IQSEC2. These approaches include gene replacement, gene editing, strategies to correct abnormal RNA processing, and other mutation-specific technologies. Some are much further along than others, and there is still a great deal of work ahead. Our goal, however, is to develop multiple tools so that we can ultimately match the right therapeutic strategy to the different types of IQSEC2 mutations.
I plan to hold a webinar for families where I will explain these different approaches, where each currently stands, and how our collaborations with groups around the world are helping us move them forward.
Finally, I am always happy to hear directly from parents. If you have questions about your child’s mutation, our research, or the therapeutic approaches we are pursuing, please feel free to reach out.
Thank you again for your extraordinary support. The progress we are making would simply not be possible without the commitment of the IQSEC2 families and community.
Andy
Professor Andrew P Levy MD PHD
Technion Faculty of Medicine
Haifa ISRAEL
