NFXF Webinar Series: Gene Therapy & the FXS Community: A Review of Community Surveys

with Dr. David Hampson, Anna De Sonia, Sarah Eley, Vivian Chen, Marisa Vomvos, and Dr. Rey Lozano

With the possibility of gene therapy getting closer and closer, many researchers are interested in knowing where the Fragile X community stands on the topic; what are the thoughts, feelings, knowledge, concerns, and hopes that come with gene therapy?

There have been many recent surveys that set out to understand this deeper.

During this webinar, expert Dr. David Hampson will lay the groundwork of understanding what gene therapy is and what’s most relevant to the future of FXS research, followed by three different groups (The Patrick Wild Centre, Mt. Siani Hospital, and the NFXF) presenting on their community survey results, with a moderated Q&A to close.

Gene Therapy & the FXS Community: A Review of Community Surveys

“Gene Therapy” for FXS:  What Are the Next Steps Toward Clinical Testing?

Dr. David Hampson, professor in the department of Pharmaceutical Sciences at the University of Toronto, kicked off this webinar with a brief lesson on gene therapy, and how it pertains to Fragile X Syndrome (FXS).  Below are a few topics and take-away points from this presentation.

• The term “gene therapy”, in its broadest definition, encompasses a variety of different types of potential treatments that act by adding, subtracting/reducing, or changing part of the disease-causing DNA, mRNA, or protein.
• There are many types of gene therapy currently being used and studied.  The four main types of gene therapy today include:

• The AAV technique is one we may likely see in the future of FXS research.
  • To date, there are 8 published studies including 7 using the mouse model and 1 study using the rat   model of FXS.  They have all demonstrated effectiveness of AAV-FMRP on a wide variety of biochemical and behavior tests.
• Gene therapy, in general, has been tested in thousands of patients for more than 2 decades.
• There are currently 4 AAV-based drugs that have been clinically approved for use (for other diseases and disorders, not for FXS).
• Very early postnatal treatment may be critical for treatment.
• There is a lot of hope for gene therapy in FXS in the future!

Gene Therapy in Fragile X Syndrome:  A Caregiver Perspective

Sarah Eley, from The Patrick Wild Centre out of the University of Edinburgh discussed her team’s online questionnaire, which specifically aimed to capture the perspectives of family and caregiver views and attitudes towards gene therapy for the treatment of FXS.  Below are key points from this survey done in the UK.

• The survey was comprised of 13 open-ended questions.
• 195 parents and caregivers completed the online questionnaire, with nearly 70% of respondents coming from the UK and Europe, 22% coming from the Americas, and the remaining responses from the rest of the world.
• Overall respondents felt interested, excited and hopeful about gene therapy, with the majority saying they want research into gene therapy for FXS to take place and that they would consider it as a treatment option.
• Strong interest from caregivers of those living with FXS in gene therapy trials taking place and optimism about the impact it could have on their family.
• There is some apprehension and nervousness about unforeseen events.
• Information programs targeted at caregivers are required to allow informed discussions around gene therapy.

Overview of the Mount Sinai Survey on FXS Caregiver Perspectives on Gene Therapy

Vivian Chen, second year genetic counseling student at Mount Sinai, worked in collaboration with Dr. Rey Lozano and genetic counselor Marisa Vomvos on their community survey.  The survey was launched from July-November 2024 with the main goals of assessing caregiver perspectives, attitudes, and knowledge on potential gene therapy for FXS.

• Total of 78 responses.
• Most respondents said their main motivator for gene therapy was to improve the quality of life of their loved one living with FXS.
• The top concern for gene therapy was side effects/risks, followed by the concern of cost and effectiveness of treatment.
• 85% of respondents agreed

NFXF Mini Community Survey

Over 350 people from the FX community completed the mini survey and shared their hopes, concerns, and how much they already know (or don’t know) about gene therapy.

High-level survey results showed that:

• Most people had some previous knowledge about gene therapy before taking the survey; however,
• Most people were unaware of the different types of gene therapies (or “genomic therapies”) available
• When asked what people want to know most about gene therapy, results showed the most popular responses were:
  • How does gene therapy work?
  • When will gene therapy be available in FXS?
  • How long do gene therapy effects last?  Is this a cure?
• Top concerns about gene therapy included:
  • Side effects & risks
  • Timeline (when will this be available in FXS?)
  • Treatment frequency (how many times )
  • Effectiveness (is this a cure?)
• 95% of survey takers said they would consider gene therapy for themselves/their loved ones living with FXS

Additional Resources

We are excited to share information and resources on our website that was referenced during the webinar.  We have included the link to additional resources and information below.

• Gene therapy simplified: what is it and how does it work?
  • Blog giving a simplified description of gene therapy and how it works

• Gene Therapy Panel Discussion
  • Panel discussion with Fragile X experts from the 19th NFXF International Fragile X Conference (July 2024)

• MyFXResearch Portal
  • View and search for ongoing research opportunities near you!  Keep a tab on this – farther down the line – when gene therapy trials are getting started.

• The Patrick Wild Centre
  • For our friends across the pond in the UK, the Patrick Wild Centre is a research center at the University of Edinburgh which aims to better understand genetic conditions affecting brain development, and to improve the care and treatment available for people with these conditions.

•    Mount Siani Fragile X Syndrome and Fragile X-related Disorders Program
  • This program at Mount Sinai in New York is dedicated to advancing the care and treatment of individuals with Fragile X-related disorders and to providing specialized services tailored to the unique needs of patients with FXS.