What if you could get your SYNGAP1 child a treatment one year sooner?

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Mike is the Managing Director of SRF & Tony’s dad.

The future is coming.  Some things are pretty clear. 

Close your eyes and imagine it’s 2023.  How old is your SynGAPian?  My son Tony turns 7 today. In 2023, he will be 9. 

Some company you’ve never heard of just announced that they have proven that their science — which none of us can pronounce — corrects SynGAP protein levels in cell lines, organoids (mini-brains) and animal models.  Your heart is filled with hope and you smile mightily for the first time in years; you ask when your doctor can treat your daughter or son.

And then someone points out that first there need to be clinical trials.  Unfortunately, despite knowing this day was coming for years, no one is sure exactly what to test, or how to measure it: in order to determine & prove the drug works in humans. The company has concluded that the existing registry & studies won’t satisfy the regulators.  

The company that has a potential cure for your child sitting on the shelf decides that they will launch their own natural history study. This will allow them to carefully study the disease, collect data and understand what to measure in a clinical trial. Best case scenario: it will take them three to six months to recruit the patients, another year to run the study (bringing patients in to sites around the country) and only then can they design a trial.

Given that exclusion criteria often limit the patients in the trial to specific age ranges, your child may not qualify for the clinical trial by then. After the trial — if approved by the FDA — then might be able to access the therapy.  So you are told to please go home to your sick kid and hang on for “a few” more years.

You find yourself incredibly angry.  Rightfully, you are frustrated.  After all, we’ve known for years that this was going to happen and yet we weren’t ready.  Why not?  Why haven’t we done more?  Didn’t they understand that Time is Brain?  Oh wait, we are they.  We’re the parents of rare kids.  It’s on us.

Will past be prologue? The Dravet Story

This is not a dark story contrived to scare the audience.  It’s essentially what happened to Dravet, when a company called Stoke showed they could treat their devastating disease.  Before I go on, let me be clear: the Dravet community and Stoke are utterly incredible and we have nothing but admiration for them and their work. SRF is built on the model of DSF.  But in spite of their brilliance, tireless work and resources, it took them two years to go from success in the lab to dosing a patient. They had more registries, patients and studies than the SYNGAP community does by a long shot.  But still, we must ask, can we move faster.

Two years ago, after creating SRF I was at the Dravet Syndrome Foundation Roundtable, learning how they accelerated research for Dravet.  It was December 2018 in New Orleans.  I remember exactly where I was sitting, in the back of the room, when Dr. Lori Isom shared her work showing that instead of 50% of the mice dying from seizures, 99% survived. (slide 14)  

It works, I thought, my God, we can change Tony’s fate.

That was two years ago and the first patient received a dose of treatment, in a clinical trial, 4 months ago. Here’s the timeline 

Through my work with SRF, I have met with 6 different researchers and companies — each working on a different way to potentially help SYNGAP patients.  The question is not if a therapy will be ready for trials, but when.  It’s going to happen.  But how long will it take?

When a company announces that they are ready to design a trial; we as a community will find ourselves at the December 2018 time point for Dravet.  The animal model data will make it clear that something could work.  But how will we prove that in humans?  Specifically, the ones we tuck in at night. And what will we measure in a clinical trial to convince the FDA to approve the drug? Will we understand the disease well enough to answer that question? 

Right now we don’t. 

SYNGAP is a tricky disease.  Seizures. Drops. Sleep. Autism. Tantrums. Intellectual impairment. Not talking. Low tone. Diapers. Scratches.  Bites.  Different levels from patient to patient. What do you measure?  What would actually change — in all patients — to show that a drug had worked?

We do know quite a bit.  Dr. Smith-Hicks reviewed all the SynGAP studies at our 2020 Roundtable.  Dr. Holder is doing detailed analysis of the patients he sees (as discussed in a SRF webinar last month).  Prof. Scheffer’s team wrote a tremendous paper in Neurology (2019) on 57 patients.  Simons Searchlight runs a great study interviewing parents each year.  But these all suffer from lack of clinical data & scale.  They do not take advantage of all the countless doctors visits and interventions our children have month after month.  Also, it’s not possible for a handful of highly trained researchers invested in SYNGAP1 to keep up with the population as it continues to grow.

This is why we have partnered with Ciitizen: they are using the most advanced technology available and regulatory expertise and executional ability to gather every page of the patient’s medical records, have robots turn each sentence that matters into machine-readable codes and make that data available for researchers, for free. ASAP.  We are lucky to have this chance.  Let’s not waste it.

This isn’t an intellectual or abstract exercise.  It’s doing the work to prepare for a clinical trial.  It’s making sure we don’t waste a year doing an “Observational Study” because data sufficient to satisfy the regulators wasn’t gathered, organized, published & available and ready for use.

Ciitizen has the potential to get our kids treated at least one full year sooner.  

This is why SRF is paying all the cost of Ciitizen and making it free to families: because the more data that is readily available, the easier it will be for a company to get the FDA to let them do trials quickly.  That’s relief for your child and mine twelve months sooner. 

It’s 2023: there is a drug that we think works based on lab and animal work.  Tony is 9.  Am I spending another year–with multiple drugs, scratches, diapers, sleepless nights, exhaustion, and complex diets–waiting?  Or am I seeing a clinical trial begin–maybe even signing him up. If he’s not too old?  Is your child in there too?

That depends, in part, on you.  If we all sign up for Ciitizen; if we do what we can now to get data ready for sharing.  So far For Tony, and for your loved one.  Sign. Up. Now.   


If you are one of the 85 US patients that have already signed up, thank you.  We are grateful you are joining SRF in doing every single thing we possibly can as families to help our children.

For more information on Ciitizen, see: