In Search of a SYNGAP1 Biomarker: What Is It and Why We Need One

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We need to find a SYNGAP1 biomarker, this grant will help make it happen.

What is the purpose of this Grant?

To prepare for clinical trials by identifying a biomarker for SYNGAP1.

SRF is hopeful — based on a number of biopharma companies we are in touch with — that there will be SYNGAP1 clinical trials in the near future. We believe this grant will help prepare for these trials now and avoid losing valuable time (as Mike says, Time is Brain) once a trial is ready to go. To be best prepared, it would be very helpful, if not necessary, to have a way to measure how a drug or therapy being tested affects the level of SYNGAP1 in the patients.

A SYNGAP1 biomarker will help solve this problem. If we can identify a biomarker now, we will be ready to go as soon as a drug is ready to be tested.

The  main goal of this grant is to facilitate identifying a biomarker for SYNGAP1 patients by creating EEG data and gathering biosamples that researchers can use. Currently, no biomarker for SYNGAP1 exists, so currently it will be difficult to show to the FDA, during a trial, that a drug is working for SYNGAP1 patients.

What is a biomarker?

A biomarker helps determine if a drug works.

In general terms, a biomarker is an observation/measurement that can help researchers determine if a treatment is working for a particular disease. More specifically, a biomarker is a medical way to measure the progress of a disease or the effects of a treatment. So, instead of relying on patient or parent reports, observing changes in symptoms, etc., a biomarker is a more scientific and reliable way to determine whether or not a treatment works.

Overall, the predetermined biomarker measurement for a disease is compared with the measurements during treatment in order to observe any changes that result from the treatment.

What’s an example of a well-known biomarker?

Cholesterol & HbA1C

A well-known example of a biomarker is cholesterol for heart disease. High cholesterol has been found to be associated with high risk for heart disease. Therefore, if a trial drug for lowering risk of heart disease results in lowered cholesterol, we know that the drug is likely working.

A second example of a well-known biomarker is A1C levels for patients with diabetes. The A1C level of a patient serves as a biomarker for diabetes, and that predetermined level is compared with the levels during a trial drug treatment to see if the drug is working.

Why are we using EEG data to create a SYNGAP1 biomarker?

It makes sense.

As all SYNGAP1 families know, Epilepsy patients undergo EEGs to monitor abnormal brain activity. The hypothesis among SYNGAP1 researchers and other researchers working on NDD (neuro developmental disabilities) is that SYNGAP1 has a unique pattern in these EEGs could serve as a biomarker.

Since the vast majority of patients with SYNGAP1 have Epilepsy, this would be very useful in trials? If a drug changes that unique pattern (that we haven’t found yet) during clinical trials, then we could argue that the therapy works.

This study will use research grade EEGs, so instead of the normal number of electrodes that patients have applied in a clinical setting, there will be many more points of connection and they will be more sensitive.

So why are we collecting biofluids (blood and saliva) too?

To cover our bases & save donors money.

We are hopeful that there will be an EEG biomarker, but it’s worth taking a closer look at blood and saliva as well. A number of researchers have asked for this. 

Since we will already have patients in world-class medical centers, we want to collect samples in a consistent way and make them available to researchers who are looking at biofluides as biomarkers. This is the most cost-effective way to collect these samples.

What’s the plan?

Collect EEG data from 20 patients, analyze data, determine a biomarker.

This grant proposes using EEGs to collect data on the brains of 20 Syngapians to then be analyzed in a second, related, grant to see if a biomarker could be made from that data. We need this data.

These 20 patients will be invited to either Boston Children’s Hospital or UCLA to complete two different EEGs, one year apart.

As part of the second grant, researchers will analyze the specific brain activity of SYNGAP1 patients, typically developing children, and patients with other synapse-related disorders to find activity that is unique to SYNGAP1.  

How much does this grant cost?

$77k – Help us raise the funds now!

$77,000 total: for the EEG data and biofluids to be collected as well as the time of the coordination at the two sites.  Consistent with SRF’s policy, no overheads are being paid with this grant.

Why is this a good investment?

It is catalytic: we are doing much more than funding EEGs and biosamples. 

Not only will world class researchers at UCLA and BCH get to know SYNGAP1 patients, but we also are getting to know the DSC. The DSC (Developmental Synaptopathies Consortium) is a large effort to help identify biomarkers for NDDs. This grant could help researchers secure more funding from the DSC.

We are giving a related grant to Boston Children’s Hospital for researchers to analyze this EEG data after spending a year analyzing Ciitizen data–becoming very familiar with SYNGAP1. As more researchers become intimately familiar with SYNGAP1 we get closer to helping all our loved ones.

Also, the Developmental Synaptopathies Consortium is a group of medical centers that study rare genetic disorders especially those resulting in ASD and ID. Every five years, the DSC takes applications from different diseases to study. The next round of applications is due in 2023, as a number of current participants are coming to the end of their term, so SYNGAP1 has the chance to be taken in as a disease of interest by the DSC. This would be excellent news for SYNGAP1 research because the DSC can accelerate research for the genes it supports. Just the fact that this study has been classified as an official DSC pilot project is great news for SYNGAP1 already!     

Who can participate?

Anyone signed up for Ciitizen!

Anyone enrolled in the SRF Ciitizen Study can participate., if you are interested and willing please let Mike know. Being signed up for Ciitizen allows for patients’ full medical records to be readily available for analysis by researchers, and therefore available to be compared to the EEG/biofluid that is collected. You can sign up for Ciitizen at no cost at this link We encourage all SYNGAP1 patients to be signed up for Ciitizen to help further SYNGAP1 research and get access to opportunities to participate in studies like this, as well as clinical trials in the not to distant future. 

To participate we ask that you:

– Travel to Boston or LA and spend a night there.

– Be willing to give blood and saliva in the morning, first thing. The blood work is fasting.

– Take an EEG that day.

– Do it all again a year later.

Please see these links below to get a better sense of why this grant is an incredible opportunity:

– Ciitizen Information: 

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

– Biomarker Development a path towards clinical trial readiness in SYNGAP1 (webinar)

Support this grant with a donation or by setting up a fundraising page