This blog was written by Lauren Perry, SYNGAP1 Mom to Will and CURE SYNGAP1 Operations Manager.
Families who have participated in ProMMiS have already made an important contribution to SYNGAP1 research. There is one more important step that will help researchers gain an even clearer understanding of SYNGAP1-Related Disorders.
By completing a short set of caregiver surveys through RARE-X, families can add valuable information that researchers cannot capture during clinic visits.
What is ProMMiS?
ProMMiS is a groundbreaking, prospective, multi-site natural history study designed to deepen our understanding of the progression of SYNGAP1-Related Disorders. The study aims to establish standardized clinical assessments and biomarkers essential for future clinical trials and treatment evaluation.
With its carefully curated approach, ProMMiS not only collects invaluable data but also serves as a foundation for defining the standard of care for SYNGAP1 patients. By building a network of multidisciplinary clinics, ProMMiS also lays the groundwork for future trial sites and helps accelerate the path to effective therapies.
Why Caregiver Surveys Matter
Clinic visits give researchers important medical and clinical information. However, some of the most meaningful insights about SYNGAP1 come from families themselves.
Caregiver reported surveys help researchers understand:
- Daily experiences and challenges
- Development and behavior over time
- Quality of life
- Symptoms that may not appear during a clinical visit
This real world information helps complete the picture of how SYNGAP1 affects individuals and families.
Where Do the Surveys Happen?
The caregiver surveys are collected through RARE-X, a secure data platform that helps rare disease communities gather patient and family reported information.
Families who participated in ProMMiS are encouraged to also participate in the SYNGAP1 Data Collection Program on RARE-X.
This allows caregiver experiences to be combined with clinical data from the ProMMiS study, creating a more complete natural history of SYNGAP1.
What Families Need to Do
If your family has participated in ProMMiS, please complete the caregiver surveys in RARE-X.
Step 1 – Create a free RARE-X account.
Step 2 – Join the SYNGAP1 Data Collection Program.
Step 3 – Complete the caregiver surveys.
Start Today rare-x.org/SYNGAP1/
Why Your Participation Matters
Every completed survey strengthens the data researchers use to understand SYNGAP1 and prepare for future treatments.
The more families who participate, the more powerful this dataset becomes for:
- understanding disease progression
- designing clinical trials
- identifying meaningful outcomes for therapies
Families have always been the driving force behind SYNGAP1 research. Your participation continues to move the field forward.
Need Help?
If you have questions about creating a RARE-X account or completing the surveys, please email Lauren Perry at lauren@cureSYNGAP1.org.
Ready to take action?
The Family Guide: How to Participate in ProMMiS
NEW! RARE-X has created a Caregiver Guide which walks you through every step. Click here!
Follow the step-by-step instructions below to register and complete your surveys. If you prefer a visual walk-through, you can follow along with our Step-by-Step Webinar Guide.
RARE-X Instructions
Step 1:
- Go to rare-x.org/SYNGAP1
- Click GET STARTED or LOGIN if you already have an account.
Note: If you already have a RARE-X account, skip to step 3.
Step 2:
- Fill out the Request Access form. Make sure to click the Caregiver Participant checkbox if you are filling this out for your Syngapian.
- Then choose “Sign Up.”
- You will receive an email asking you to verify your email address and to create a log-in.
Step 3:
Fill out the Data Sharing Agreement to get access to the ProMMiS-specific surveys.
Step 4: Important!
At this next screen, your survey dashboard, you must first fill out the Authorization form at the top of the Consents and Data Sharing section. This allows the survey data you are about to submit to be added to the study.
Now that you’ve done this important step, you will have access to all the ProMMiS surveys!
Note: There are several levels of surveys available on RARE-X. For the SYNGAP1 NHS, the SYGNAP1 ProMMiS Natural History Study surveys are the most important. Please fill these out. Here is an example from a SYNGAP1 patient’s survey list.
Thank you for being a part of this important research! Email Lauren Perry lauren@cureSYNGAP1.org if you have any questions at all. She will be happy to help you via email, over the phone or on a video call.