Gene Therapy Community Survey Results
Presented by Anna De Sonia (5 min.). To better understand the FX community’s thoughts, feelings, and attitudes towards gene therapy, the NFXF launched a mini-survey earlier this summer.
Over 350 people completed the mini survey and shared their hopes, concerns, and how much they already know (or don’t know) about gene therapy.
High-level results from this community survey:
- Most people had some previous knowledge about gene therapy before taking the survey.
- Most people were unaware of the different types of gene (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
Gene Therapy Survey Results Q&A
Presented by Hilary Rosselot (48 minutes). Hilary Rosselot, executive director at the NFXF, moderated a brief Q&A and panel discussion following the presentation of the gene therapy survey results.
Experts in the field shared their own opinions and feelings about gene therapy and what they’re most excited about for the future as we continue to make strides in Fragile X research.
Hilary kicked the panel discussion off by exploring the language and terms used when talking about “gene therapy”:
- Dr. Elizabeth-Berry-Kravis pointed out that “gene therapy” technically refers to transferring a gene back into the body. Most of us think ”gene therapy” is all-encompassing, but it actually refers only to this one avenue of treating someone’s genetics.
- The most common form of ”gene therapy” is through a viral vector. You can take the gene, put it into a virus and give it to the affected person so the virus can transfer the gene into the cells of interest.
- There are other ways to treat genetic conditions, though, and Dr. Berry-Kravis calls these ”genetically targeted strategies.” These work differently than introducing a gene back into the body. These include:
- ASOs – where you introduce a small piece of DNA that goes and binds to RNA and changes your genetics (i.e. what your genes are doing).
- Other strategies that are currently in development (but still far from being implemented in humans) such as “editing” a gene. This could look like removing the “bad” part of the gene or changing a gene to have a “normal” gene sequence.
- Reactivation – where you “turn on” part of the gene that’s not working.
- Dr. Rey Lozano and Dr. Randi Hagerman further elaborated on genetically targeted strategies utilizing protein.
- Dr. Peter Todd added that he prefers the term “genomic therapeutics” to encompass all types of genetic treatment avenues. We like this term too!
When asked about how genomic therapeutics will be given to people, Dr. Hagerman explained that it really depends on the type of therapy:
- Protein replacement therapies may use an IV in the arm.
- Gene therapies (virus carrying “normal” gene) are injected directly into the spinal fluid so the gene therapy can go right into the brain.
- Gene therapy is a “one and done” situation since bodies will develop a response to the virus.> ASOs use injection into the spinal fluid on a timed schedule (example: injection every 3 weeks).
- It is still unknown how future therapies will be delivered into humans.
- Dr. Rey Lozano pointed out that these trials are not yet available in FXS.
- Dr. Peter Todd added that while these technologies are not being developed specifically for FXS, the development of these technologies in common conditions will drive the delivery method, which will then be adaptable to FXS.
Experts discussed the topic of safety and development of genomic therapeutics, touching on topics like “How do we know that these therapies are safe?” and “Where do these therapies start being developed and how do we know that they will be safe in humans?” This led into discussion about how some therapies are reversable and some aren’t, and potential side-effects.
Panelists discussed the question of “who will be eligible?” when these genomic therapeutics eventually arrive into the FXS space. Experts agreed that while these therapeutics will help adults, they may help children more since the brain is still developing in children. However, researchers must play within the bounds set by the FDA and have to follow their drug-development process. This doesn’t mean that researchers won’t push to make this available to children earlier on though!
Hilary presented an important hypothetical situation: ‘If I participate in one genomic therapy trial, am I eligible to participate in another one?’ and experts all had the same response — put simply — no. While drugs/therapies are under investigation, people in trials are only allowed to participate in one at a time, and participating in some trials may exclude you from participating in future trials.
- This is why it’s so important to do your research, feel all the feelings, talk to your experts, and ask all the questions before deciding if a genomic therapy is right for you.
The panelists were presented with a really interesting and important question: “Do genomic therapies change the core of who you are?” Dr. Berry-Kravis, who has administered ASO therapies in Angelman syndrome, another developmental disorder, shared that she hasn’t noticed any changes to the personalities of her patients who have received these treatments. Dr. Todd added that we can’t ever really know, until later, who people will become, and reminded us that “change, for many of us, is good.”
The panel wrapped up by describing what they’re looking forward to most in terms of genomic therapeutic advancements in the FX field:
- Dr. Lozano pointed out that gene therapy has been around for decades but the recent advancements to the field make gene therapy a strong possibility for the near future.
- Dr. Hagerman emphasized that genomic therapies will be remarkable for many disorders, including FXS. She stated that while genomic therapy is “not for everyone…for many, it will absolutely change their lives.”
- Dr. Berry-Kravis said she’s looking forward to “cocktails” in a play on words. In this case, she meant that it’s likely that nothing is going to work perfectly on its own, but genomic therapies combined together could provide a “massive improvement”. Oh, and she’s looking forward to getting approval so she and Dr. Hagerman can retire.
- Dr. Todd said he’s looking forward to actual cocktails at the retirement party of Liz & Randi after finally getting FDA approval. He finished by stating that his career won’t be complete until a cure is found.
Anna said she’s most excited to see the impact of genomic therapies on the community as a whole — the “big picture.” Who knows how great it will look!
The NFXF has compiled a group of experts into a gene therapy committee. This committee will help the NFXF create content about genomic therapies that will be shared with you, so you can stay informed. Keep a look out for more genomic therapy content in the near future!
About the Panelists
Peter K. Todd
Peter K. Todd, MD, PhD, is the Bucky and Patti Harris Professor in the Department of Neurology at the University of Michigan Medical School. As a clinician, Dr. Todd co-directs Michigan University’s Multidisciplinary Ataxia Clinic, where he sees patients with FXTAS (Fragile X-associated tremor/ataxia syndrome), and the Fragile X Syndrome Clinic, where he sees adult patients with Fragile X syndrome. He also serves as director of the Clinical Neurogenetics Research Program, which aims to improve research and care for patients with inherited neurological disorders.
As a physician-scientist, the Peter Todd Lab studies the mechanisms by which nucleotide repeat expansions cause neurodevelopmental and neurodegenerative disorders with a long-term goal of developing novel therapeutics for currently untreatable conditions. His lab has published extensively on Fragile X-associated disorders, such as Fragile X syndrome and FXTAS, as well as C9orf72 repeat expansions that cause ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease) and frontotemporal dementia.
In the past decade, Dr. Todd has given over 80 invited presentations across the world and published over 50 papers on his research.
Elizabeth Berry-Kravis
Elizabeth Berry-Kravis, MD, PhD, established the Fragile X Clinic and Research Program at Rush University Medical Center in 1992. She studies Fragile X syndrome medical issues, epilepsy, and psychopharmacology and provides care to over 700 patients with FXS. She has been a leader in translational research, including the development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments.
Dr. Berry-Kravis’s laboratory studies the cellular roles of the Fragile X protein (FMRP), its relationship to phenotypes, and the optimization of genetic testing methods. She is a longstanding member of the NFXF Scientific and Clinical Advisory Committee, and Clinical Trials Committee, and is the principal investigator of the CDC-funded FORWARD-MARCH natural history project for Fragile X.
Dr. Berry-Kravis attended the University of Notre Dame for her undergraduate studies and the University of Chicago for her doctoral degrees (MD and PhD) and training in pediatric neurology.
Randi J. Hagerman
Developmental pediatrician Randi J. Hagerman, MD, FAAP, is a highly regarded professional within the Fragile X community. She co-founded the National Fragile X Foundation in 1984 and served on the board for 25 years. In 2009, she decided it was time to step aside and let others bring their expertise to the board, though she continues to help guide the foundation to this day.
There is no aspect of the NFXF that Randi has not helped shape. Her strength as both a clinician and researcher has informed the NFXF mission and strategic plan. She and her husband, Dr. Paul Hagerman, generously support the NFXF mission. While Randi is no longer a board member, she is active on the NFXF Scientific & Clinical Advisory Committee and the Fragile X Clinical & Research Consortium where she represents the UC Davis Medical Center’s MIND Institute as medical director of the Fragile X Clinic.
Randi continues to be a sought-after speaker and her work has expanded from Fragile X syndrome to all Fragile X-associated disorders. Randi is continually on the go as an international spokesperson for Fragile X. Fortunately, she’s only seconds away by phone when we need to call upon her for her guidance, advice, and wisdom.
Reymundo Lozano
Reymundo Lozano, MD, MS, associate professor of Psychiatry, Genetics and Genomic Sciences, and Pediatrics and Department of Pediatrics, is a pediatric and adult clinical geneticist with neurodevelopmental and aging research training. He is the director of the Mt. Sinai Fragile X Spectrum Disorder Clinic, and as a collaborator on clinical trials in Fragile X syndrome, Dr. Lozano is committed to finding new pharmacological treatments.
Dr. Lozano enjoys working with the Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome scientific and medical communities, patients, and families utilizing current and innovative treatment strategies to ameliorate patients’ medical challenges. Dr. Lozano is a member of the NFXF board of directors and the Clinical Trials Committee.
About the Moderators
Anna De Sonia
Anna joined the NFXF in 2024. She found her way to the Fragile X community through her many years of work as a clinical research coordinator at Rush University Medical Center in Chicago. There she worked on research in the pediatric neurology division, with a special interest in Fragile X. Anna earned her bachelor’s in psychology and obtained a clinical research coordinator (CCRC) certification through the ACRP. She likes to take time to enjoy life’s simple pleasures, loves traveling and exploring new cultures, and spending quality time with her dog, family and friends.
Hilary Rosselot
Hilary joined the NFXF team in 2019. Prior to joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for several years. She has experience as a clinical research coordinator across many types of clinical trials and served as the clinical research manager for the Cincinnati program. She earned a bachelor’s in psychology, an MBA, and was previously a SOCRA-certified clinical research professional (CCRP). She enjoys spending time with her family, including her young daughter and Boston Terrier, as well as curling up with a good book.
