When someone you love is diagnosed with SYNGAP1-Related Disorders, it can be difficult to know what to do next. Research is moving forward, but researchers, clinicians, and companies need participation from our community to understand SYNGAP1, develop treatments, and prepare for future clinical trials.
This guide was created specifically for SYNGAP1 families living in the United States. Some of these opportunities may also be available internationally, but study eligibility, research sites, and available programs vary by country.
Every family has a role to play, and every action matters. Whether you are newly diagnosed or have been part of the community for years, here are six important ways you can get involved.
Step 1: Connect With Us
The first step is making sure your family is connected and counted.
Join CURE SYNGAP1 Connect
CURE SYNGAP1 Connect helps us understand the size and needs of our global community. The information families provide allows us to share relevant research opportunities, clinical studies, events, resources, and important updates.
Join at cureSYNGAP1.org/Connect.
Join Citizen Health
Citizen Health helps families gather and organize medical records in one secure place. With your permission, de-identified information from those records can help researchers better understand the SYNGAP1 patient journey, including symptoms, treatments, and changes over time.
Learn more at cureSYNGAP1.org/Citizen.
Use the SYNGAP1 ICD-10 Code
Ask your healthcare providers to include the SYNGAP1-specific ICD-10 code, F78.A1, in your loved one’s medical record when appropriate.
Using the correct code helps SYNGAP1 patients become visible in healthcare data. This can improve our understanding of the number of diagnosed patients and support research, treatment development, and access to appropriate care.
Learn more at cureSYNGAP1.org/ICD.
Step 2: Participate in the ProMMiS Natural History Study
Natural history studies help researchers understand how SYNGAP1-Related Disorders affects individuals throughout their lives. They document symptoms, development, seizures, behavior, communication, and other important changes over time.
This information is essential for designing clinical trials and determining whether a potential treatment is making a meaningful difference.
ProMMiS and RARE-X
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.
ProMMiS collects information in two important ways. Participating clinics gather medical and clinical data through in-person assessments. Families complete the caregiver-reported portion of the study through RARE-X, a secure data platform for rare disease communities.
These surveys capture information that may not be visible during a clinic visit, including:
- Daily experiences and challenges
- Development and behavior over time
- Quality of life
- Symptoms that may not appear during a clinical assessment
Combining families’ experiences with clinical data creates a more complete picture of how SYNGAP1 affects individuals over time. This information helps researchers understand disease progression, identify meaningful outcomes, and prepare for future clinical trials.
If your family has participated in ProMMiS, it is important to complete the ProMMiS caregiver surveys in RARE-X so your family’s contribution to the study is complete.
Visit cureSYNGAP1.org/Studies to learn more about ProMMiS and other current research opportunities.
If you have participated in ProMMiS, follow our step-by-step RARE-X instructions to complete the caregiver surveys.
Step 3: Contribute to the COMBINEDBrain Biorepository
Biological samples, such as blood, can provide researchers with valuable information that medical records, clinical assessments, and surveys cannot capture on their own.
CURE SYNGAP1 partners with COMBINEDBrain to help families contribute samples to a biorepository. These samples may be made available to qualified researchers studying SYNGAP1-Related Disorders and working to develop potential treatments.
Learn more about contributing to the biorepository at cureSYNGAP1.org/CB26.
Step 4: Join Studies and Clinical Trials
Researchers need families to participate in studies of every kind, including surveys, observational studies, wearable-device studies, biomarker research, and clinical trials.
Not every opportunity will be right for every person, but reviewing available studies can help you understand your options. Eligibility requirements will vary, and participation is always your choice.
Visit cureSYNGAP1.org/Studies to see current opportunities and learn how to participate.
Step 5: Support the Mission
There are many ways to move the mission forward beyond participating in research.
Fundraise
Fundraising helps CURE SYNGAP1 support research, family programs, education, advocacy, and community resources. Families can organize an event, start an online fundraiser, celebrate a milestone, or create something entirely their own.
Get started at cureSYNGAP1.org/FR.
Volunteer
Our volunteers bring valuable skills, experiences, and perspectives to the organization. Whether you have a little time or want to take on a larger project, we would love to find out how you may be able to help.
Visit cureSYNGAP1.org/Volunteer.
Learn and Share
Learning about SYNGAP1 helps families make informed decisions and advocate more effectively. Sharing reliable information also helps increase awareness among relatives, educators, healthcare professionals, and the wider community.
Listen to the CURE SYNGAP1 Podcast at cureSYNGAP1.org/Podcasts.
Step 6: Engage With the Community
You do not have to navigate SYNGAP1 alone. Connecting with other families can provide practical guidance, encouragement, and a sense of belonging that is difficult to find anywhere else.
Attend a CURE SYNGAP1 Conference, participate in community events, and look for opportunities to meet other families in your area.
Learn more about the 2026 CURE SYNGAP1 Conference in Denver at cureSYNGAP1.org/Denver.
Every Action Makes a Difference
You do not have to take every step at once. Start with what feels manageable for your family. Every action, whether it is joining CURE SYNGAP1 Connect, completing a survey, participating in research, volunteering, or connecting with another family, helps move our community forward.
When families take action together, we give researchers better information, strengthen our community, and help bring us closer to effective treatments and a cure.
Not Sure Where to Begin?
If you have questions or need help deciding what your family should do next, please email Lauren Perry at lauren@cureSYNGAP1.org. She will be happy to help you get started.