The NFXF Conference, Research Opportunities, and a Fragile X Q&A
NFXF Webinar Recap
In case you don’t have time, or would prefer the information in written form, we are now providing NFXF Webinar recaps. These are summaries of the webinars, using paraphrases rather than word-for-word dictation of the actual webinars.
For this webinar, we were joined by Dr. Craig Erickson of the Cincinnati Fragile X Clinic. Our topics were:
Intro to the NFXF International Fragile X Conference
Research Opportunities at the Conference
A Short Q&A
The NFXF International Fragile X Conference
Presenter: Jayne Dixon Weber
The Conference is a large part of accomplishing the NFXF’s mission to provide support and education by giving attendees an opportunity discover the latest research, plus learn new techniques, behavior, and coping strategies.
This conference is the largest of its kind in the world, bringing together professionals, caregivers, self-advocates, and family members all in one place. The majority of the sessions are family-friendly, geared toward individuals living with Fragile X. In addition, there are many scientific and technical sessions, plus sessions on clinical research. While these can be a little bit more advanced, they are often very informative for families to attend.
Getting Help at the Conference
This year, we are providing green lanyards which will designate you as “new to the conference.” If you are wearing it, it will help us to give you a better experience and provide you more guidance. However, even if this isn’t your first time, you may still have a green lanyard if you’d like extra guidance and support getting around the Conference.
Conference Mentors will be wearing red buttons to help you identify them, in case you need any help! They will be available to anyone who is new the conference or has questions.
The Conference Schedule
To help you organize your day, we’ve come up with tracks on topics like young children, behavior, education, adults, premutation carrier issues, and more. They will be provided via the Conference App which will also be released around June 25.
We’ve got a great lineup of morning keynotes for you this year.
There will be a special session called Industry Updates, which will provide information on the latest in Fragile X clinical trials.
Expanded Poster Reception on Friday will give you more time with the presenters.
David’s Dance Session: For the past two conferences, this has been a delightful experience for self-advocates who never realized they could dance! After several sessions, they will be ready to perform at the Saturday Night Banquet (if they choose).
Tips and Frequently Asked Questions
Every hotel tends to turn up their A/C. Even though it’s summer time, we recommend bringing an extra layer because rooms can get a little cold.
Look at the schedule before you go! There are a lot of interesting topics, which might make it overwhelming. It’s good to plan ahead before the day begins.
What if there are two sessions scheduled at the same time?
This is a great time to make friends! Connect with someone who is also interested in the same sessions as you, then exchange information afterwards!
We also are requiring that the presenters upload their presentation materials, which will be available for you on the Conference App.
Post your question at the NFXF International Conference Page
Research Opportunities at the Conference
Presenter: Dr. Craig Erickson
Dr. Erickson says there’s no other meeting in the world where the best scientists, family advocates, self-advocates, and therapists are all together in a collegial environment. Cincinnati is his home town, so having the Conference come to his city is special to him.
“Once we got the program established,” Dr. Erickson said, “There was nothing more I wanted than to partner with our local group to host this conference.” This is a town where he says Fragile X “is given the respect it deserves.”
Dr. Erickson will be joined at the Conference by members of his Fragile X clinic, which includes nearly 20 professionals who will set up a booth to answer your questions.
Here are some research opportunities that attendees can participate in before/during/after the conference:
Behavioral EEG Studies of Cognitive Flexibility in Fragile X Syndrome
This study is examining the trouble some individuals with FXS have with Cognitive Flexibility. Cognitive Flexibility is the ability to change your approach, like transitioning from one thought to another, trying new things, coping with routine changes, or shifting topics.
Uses a computer-based test to examine learning and changing patterns.
It is non-invasive: “EEG Net” worn on the head which communicates how the brain responds to the test.
The test itself takes about 30 minutes, but 2 hours total with consent forms, etc.
NIH Transcranial Magnetic Stimulation
This study examines how the brain functions via magnetic pulses so that we can understand how treatments affect the brain.
Participants are fully awake, watching a video. A TMS coil is held above the skull which generates a magnetic pulse. The readout is worn on the finger.
This is a very safe study for participants aged 8 to 55 year old who have had no experience of seizures.
Potential travel support is available for up to $1000
Baby Imaging Study
This study uses MRI in infants and toddlers to determine the factors in the brain that cause autism risk in Fragile X. They feel they might also find insight into seizure risks.
There aren’t a lot of babies available in Fragile X research, because early diagnosis is not common, so this is an exciting project for you to participate in.
The researchers are looking for participants aged 3 months to 3 years old.
This is non-invasive, no radiation, and no sedation.
Often have success at night time or bed time, while the child is sleeping.
Fragile X Protein Sampling in Blood
Researchers have discovered that there is variation in Fragile X protein production within the full mutation and premutation. Participants will give a simple blood sample which the researchers can examine.
They are hoping to be able to predict developmental outcome via protein production.
Later, during the Q&A session, an audience member asked for a clarification about this study. Dr. Erickson replied that a third of boys with the a full mutation have measurable protein (Often, the full mutation means little to none of the Fragile X protein is produced). Some of his cells might have 120 repeats, others might have 500. The goal is to figure out who these people are, and why do some people who appear to be high functioning produce very little protein.
For instance, Dr. Erickson has run into his sixth patient with the full mutation that can drive. He wants to know how that works and why it’s possible. Is that a protein issue?
Many treatments for Fragile X target protein production. We need to know how much protein can and should be changed in order for it to be meaningful.
This will also be measured against the general population.
Repeat testing will also be necessary. As researchers understand it, it might be possible for the protein production to change from day-to-day or even moment-to-moment. If researchers are focused on adjusting the levels, they need to know that based on nature itself.
Looking for participants who either have the full mutation or premutation of Fragile X.
This study is to learn more about a potential communication outcome measure to use when evaluating treatments with FXS.
This is an observational study. A structured play scenario will be recorded and then coded.
The session will occur over two days – two time points must be recorded to see change over time.
Looking for boys aged 3-12 years with FXS.
This is a multi-site clinical trial with Dr. Liz Berry-Kravis of Rush University as the principal investigator. You can learn more here (LINK TO STUDY).
For children aged 3-6 years old with FXS.
Three Drug Single-Dose Study
This study will use minocycline, lovastatin, and baclofen (the generic version of the drug used in Seaside’s STX209 study) to observe what effect it has on brain activation.
FORWARD Registry and Database
Cincinnati is also doing studies using the FORWARD Registry and Database for both the very young and the older. Please visit the Cincinnati table for more information on this.
Clinic research is open all day Monday-Wednesday before the conference and Sunday-Monday after the conference.
Evening hours are also available
Some testing is available in the meeting hotel
Travel reimbursement available based on project and time spent
Special Conference Event: Thursday Evening Visit to Clinic
Come for dinner, a movie, and a tour of the facility. Food will be available as soon as you arrive! There is no obligation to participate in research. Dr. Erickson and the team just wants you to enjoy the evening.
A recent episode of the Nova TV show featured CRISPR technology and included a case involving boys that had an X-based genetic condition that involved the brain microglia, 3 of 4 were successfully treated. What are prospects for FX with CRISPR?
Stephen Warren, who discovered Fragile X, believes we are still at least a few years away from CRISPR to reactivate the gene.
Fulcrum Therapeutics is one company focused on gene activation that has funds and interest in Fragile X, not necessarily using CRISPR.
Then there is also viral vector technology: using benign viruses as a way to get into a cell and turn a gene on or off or delete out repeats.
Dr. Erickson’s group is particularly interested in viral vector technology. It’s already been used in rare genetic disorders, including spinal muscular atrophy.
But there’s a lot to work out, such as, “How do you deliver the virus to the brain in a safe way?”
The point: There are a number of methods for gene reactivation.
“I view CRISPR as one bullet in the gun aimed at gene reactivation… There is a heck of a lot going on with gene reactivation. I think it’s meaningful,” Dr. Erickson says. “I think we’re at the dawning of a new age of treatment opportunities.”
Zynerba is doing synthetic CBD. Will they be starting this year?
“What I can say is that they are taking early open label data from Australia and doing a large “Phase 2” Fragile X study. This is published on the Internet as public knowledge.”
Dr. Erickson believes it will start in the US in late summer. The Cincinnati anticipates being involved with that as will a lot of Fragile x centers.
The confusion people often have is between CBD and THC. Cannabidiol will be applied to the skin and is much different from THC, which is the part of marijuana/cannabis that is related to drug abuse or causing the feeling of being “high.”
Unfortunately, the USFDA does not differentiate between them. So, Federal law regulates the same way (Schedule 1), which is very strict. This slows down the process to move forward with the study, but it is not impossible to move forward.
Thank you to Dr. Erickson for joining us for this webinar. NFXF webinars are supported by the generous gifts given by our donors. Please help us continue this free service by donating at fragilex.org/donate.