2024 Updates to the SYNGAP1 Natural History Study at CHOP

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Important information about SRF’s ENDD Travel Assistance Program

Please take a moment to review our ENDD Travel Assistance Program information. (El programa en español está aquí.) SRF will continue to provide supplemental support to families who need it as they prepare to visit CHOP for additional visits in 2024. SynGAP Research Fund is able to reimburse families up to $500 when driving, or $1,000 when flying, on qualifying receipts. International families are also eligible for the Program. If you have questions or plan to request travel assistance, please email both sydney@curesyngap1.org and lauren@curesyngap1.org

If you have not yet signed up to participate in the Natural History Study, you can email endd@chop.edu (please also cc Lauren and Sydney) with your child’s name, age, and location.

The SYNGAP1 Natural History Study at CHOP is 6 months old

The first SYNGAP1 families traveled out to Philadelphia to begin the Natural History Study in July of 2023. In just six short months, the team at CHOP has seen over 44 patients and some of them are returning for their second visits. In fact, participation has been so strong that the team at CHOP has set the ambitious goal of including 100 SYNGAP1 patients in the study. Space for new patients is still available and it is not too late to reach out to the team at ENDD if you want to participate. We were honored to have an entire corner of our recent SRF Conference dedicated to the enthusiastic and growing team of researchers and clinicians from CHOP.

Updates to ENDD appointments and logistics – take note when visiting in 2024

Actual appointments continue to look much like they did when the study started back in July. The exception is that the qEEG is now part of the visit, which was not initially available. This is a cap that covers the head of the patient without needing to place individual electrodes one at a time on their heads (as with a regular EEG). We’re grateful to have such a low-lift, high-quality tool for measuring the brain wave patterns of our loved ones in just 15-20 minutes. With that addition, most families report a total visit time of 6-8 hours. Each visit still includes a full array of specialists, which include a Neurologist, a Child Developmental Pediatrician, and both OT and PT evaluations. You can see a great write-up of what a typical day looks like here thanks to Jess Duggan.

The qEEG cap is much easier to apply than traditional EEG leads and only needs 15-20 minutes of data. Patients can watch their iPads if needed during that time.

Visits have spread out a bit over the last few months as the team has made way for including the 100 patients while also seeing each one return. This means that younger children (under 10) will be seen closer to the every 6-month mark, while older patients or those for whom the preference is to come less often can be seen every 6-12 months. However, you are encouraged by the CHOP team to communicate your needs and preferences for scheduling via email (endd@chop.edu). Additionally, the team at CHOP rolled out their plans for seeing international patients. The cost and the services provided at the visit will vary on a case-by-case basis for each patient. Therefore, international families are encouraged to reach out to endd@chop.edu to begin the process with their loved one’s name, age, and location.

CHOP’s Natural History Study gathers information from patients of all ages, giving us a comprehensive picture of the disease over the lifespan. Here, our oldest known patient meets one of the young adults at their ENDD appointments.

Logistically, we have noticed that CHOP’s list of hotels that provide a discount to patients is now a couple of years old. Because of this, many families have found that the discounted rates offered differ, sometimes substantially, from those noted on the list. The list is also only for each hotel’s standard room size, and any upgrades will incur additional costs. We encourage families to book early and to be prepared to pay more than the listed rates on the list.

Read more about ENDD: https://curesyngap1.org/endd/

Additional resources about the ENDD Natural History Study

Information on Stanford Synaptopathy Clinic for West Coast Families
Mention of ENDD Natural History Study in Recent Syngap10 Podcast
What to Expect when you Prepare to Visit the SYNGAP1 Natural History Study
Natural History Study at Children’s Hospital of Philadelphia is a Natural Win for SRF!
SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1

Meeting other families with appointments on the same day has been a highlight for participants!