Below are SYNGAP1 research studies in which CURE SYNGAP1 has participated in the past.
Neurodevelopmental Disorders – Health Index Study, Rochester Phase 3
Closed May, 2026
Institution: University of Rochester Medical Center
Principal Investigator: Chad Heatwole, MD, MS-CI
Location: This study consists of surveys and a possible follow-up video interview – all performed remotely
Inclusion Criteria: This study is for caregivers of those diagnosed with SYNGAP1 living in the US. All ages are welcome.
How to sign up: Please contact Christina Shupe, MPH via email (christina.shupe@chet.rochester.edu or phone (585.353.2000). Please cc corey@cureSYNGAP1.org.
Study Video: SRF | Rochester Health Index Study, Phase 3
Beacon Dreem EEG Device Study in SYNGAP1
Closed May, 2026
Institution: Beacon Biosignals
Principal Investigator: Jay Pathmanathan, MD, PhD
Funding Source: N/A
Inclusion Criteria:
- Diagnosis of SYNGAP1 living in the US, aged 8 years old and older.
Location: This study is performed in the home by the caregiver and consists of the following:
- Recruitment goal of 30 patients
- You will be asked to attempt to have your loved one(s) with SYNGAP1 wear the EEG headband for a total of 10 nights over 2 weeks. We will show you some tricks to help slip on the headband, perfected by a SYNGAP1 mom. You get credit for trying a recording, even if your loved one does not keep the band on.
- You will be asked to answer surveys for each night of recording.
- You will be eligible to receive up to $200 for your participation.
- Beacon will not charge you anything – including no cost to receive the device, no cost to return the device (we will provide a prepaid mailer), and no charges for any damages to the headband (should that happen).
- You will need to control the device with an app downloaded onto your own Apple or Android phone (we only support Apple and Android). If you have multiple Syngapians in your household, you would need a separate phone for each headband or you can enroll separately .
- You WILL NOT receive the EEG data or interpretations back!! The study is completely anonymous. Aggregated/anonymized data will be returned to CURE SYNGAP1, but CURE SYNGAP1 will not be able to reidentify any individuals.
- Vagal Nerve Stimulators (VNS) are fine and NOT an exclusion.
- You will have to meet with the Beacon team on a brief zoom call when signing the consent form and they will answer any questions before you sign the consent form!
How to sign up: Please contact syngap-study@beacon.bio. Please cc studies@cureSYNGAP1.org.
Further Reading: Wearables: An Essential For Decentralized Clinical Trials
Related Videos:
- Beacon Biosignals DREEM Headband SYNGAP1 Study Summary
- CURE SYNGAP1 Webinar #98
- Beacon Biosignals DREEM Headband at Cure SYNGAP1 Conference 2024
The EMERALD Study (At Home, In Clinic, or Combination)
Closed April, 2026
Institution: Praxis Precision Medicines
Description: The EMERALD study is investigating a new potential treatment (Relutrigine) for children and adults with any DEEs, such as SYNGAP1-related disorders. You choose where your child participates in the study – at home, in a clinic, or a combination of the two.
Inclusion Criteria: This study is open to individuals aged 2 through 65 years of age who have a diagnosis of SYNGAP1-related disorders (or another DEE). The individual must have at least 4 motor seizures (seizures that involve movement including atonic [or drop] seizures) in the 4 weeks prior to screening. US, Europe, Australia, South America.
How to sign up: Visit https://www.resiliencestudies.com/emerald and once you have signed up, email SRF at studies@cureSYNGAP1.org so we can monitor participation.
COMBINEDBrain Biorepository Roadshow – 2025
Closed December, 2025
Institution: COMBINEDBrain
Inclusion Criteria: All those diagnosed with SYNGAP1-related disorders, siblings, and biological parents (especially those of same gender as Syngapian). Samples can be collected as often as every 6 months.
Regular Sampling Helps! Providing blood samples every 6-12 months helps see how a Syngapian’s blood changes over time. When their biological sibling(s) and parents also give blood, their changes can be compared as well.
What Does This Do? COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers.
Where? Dates and locations for 2025 are below. Complete list with addresses can be found here.
Hereditary Neuropathy Foundation – April 24-25 Nashville, TN- Coalition to Cure CHD2 – June 14-15 Westminster, CO
- United Mitochondrial Disease Foundation – June 18-21 St. Louis, MO
- Prader Willi Syndrome – June 27-28 Phoenix, AZ
- Med13L Foundation, CTNNB1 Connect & Cure – July 10-12 Boston, MA
- CSNK2A1 Foundation – July 18-19 Denver, CO
- STXBP1 Foundation – July 19-20 Westminster, CO
- The Stiff Person Syndrome Research Foundation – July 19-20 Windsor Locks, CT
- KCNQ2 Cure Alliance – Sept/Oct TBD Philadelphia, PA
- CURE SYNGAP1, Cure GABA-A Variants, SLC6A1 Connect – December 4-5 Atlanta, GA
How to sign up: email Corey Baysden at corey@cureSYNGAP1.org with the following information for each person from whom samples will be drawn:
- Name of person
- Place and date where you’d like to have samples taken
- Name of caregiver giving consent (for Syngapians or non-adult siblings)
- Email of person giving consent
- Phone number of person giving consent
- What you want collected (typically Blood, isolation of plasma, blood spot card, or urine)
Read about family experiences giving samples at the COMBINEDBrain Roadshow: Fueling Research: SYNGAP1 Families Contribute to the COMBINEDBrain Biorepository Roadshow
COMBINEDBrain Biorepository Roadshow – 2024
Closed December, 2024
Institution: COMBINEDBrain
Inclusion Criteria: All those diagnosed with SYNGAP1-related disorders, siblings, and biological parents (especially those of same gender as Syngapian)
What Does This Do? COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers.
Where? Dates and locations for 2024 include the following conferences:
- STXBP1 Foundation – Philadelphia, PA, July 19-21
- Myhre Syndrome – Philadelphia, PA, July 27-28
- YBRP and HNRNP – Seattle, WA, July 29-30
- PWS-USP7 – Atlanta, GA, September 27-28
- COMBINEDBrain – Kansas City, MO, September 29
- SYNGAP1, SLC6A1, and Cure GABA-A (AES) – Los Angeles, CA, December 5-6
How to sign up: email Kathryn Helde at cso@curesyngap1.org with the following information for each person from whom samples will be drawn:
- Name of person
- Place and date where you’d like to have samples taken
- Name of caregiver giving consent (for Syngapians or non-adult siblings)
- Email of person giving consent
- Phone number of person giving consent
- What you want collected (typically Blood, isolation of plasma, blood spot card, or urine)
Project WellCAST: Supporting the well-being of caregivers via telehealth
Closed
Institution: Kelleher Lab at Purdue University
Principal Investigator: Dr. Bridgette Kelleher
Funding: NIH
Inclusion Criteria:
- Caregiver (age 18+) of a child aged 2-35 with a documented neurogenetic condition associated with intellectual disability, such as SYNGAP1
- Resident of the US
- Fluent in English
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
National Brain Gene Registry
Institution: Washington University School of Medicine in St. Louis and others
Funding: NIH Grant
Inclusion Criteria: Patients who have had genetic testing and whose results show a change in any one of hundreds of genes, including SYNGAP1. For a complete list of eligible genes and to learn more, visit: https://braingeneregistry.wustl.edu/
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
Changes Study – an Investigation into Behaviour and Physiology in SYNGAP1
Closed October, 2024
Institution: The Patrick Wild Centre, University of Edinburgh, Scotland, UK
Principal Investigators: Dr. Andrew Stanfield, MBChB PhD, Sydni Weissgold
Funding: N/A
Inclusion Criteria: Participants must be between the ages of 2-15 & either 1) have a diagnosis of SYNGAP1-related intellectual disability or 2) have no diagnosed neurodevelopmental conditions. This study is held at the University of Edinburgh, and after first visit, a follow-up visit will be scheduled one year later.
Additional locations in the UK, 2024:
- York (9-10 March)
- Manchester (20-21 April)
- Luton/Watford (22-23 June)
- Bristol (29-30 June)
How to sign up: Forward your interest in participating or your questions to Sydni Weissgold S.A.Weissgold@sms.ed.a.cuk or Dr. Andrew Stanfield andrew.stanfield@ed.ac.uk. Please copy Corey Baysden, SRF via corey@curesyngap1.org
Additional information is here
SYNGAP1 Patient Analysis To Identify Better Medicines
Closed September, 2024
Institution: Unravel Biosciences
Inclusion criteria:
- Patient diagnosed with SYNGAP1-related disorders [genetic report with P/LP SYNGAP1 finding (not multigenic)]
- Lives in the USA or Canada
- Enrollment in Citizen Health
- Same-sex, same-household, family control (sibling or parent)
How to participate: Complete this form to screen patients. If accepted, you will receive nasal swabs at your home to swab a SYNGAP1 patient and a SAME-SEX family member who lives in the same household. Return the samples as quickly as possible, within two weeks at most.
Parent Communication and Sibling Knowledge of Neurogenetic Conditions
Closed May 30, 2024
Institution: Cincinnati Children’s
Principal Investigators: Abigail Turnwald, MS, LGC
Funding: N/A
Inclusion Criteria: Parents of a child with a neurogenetic condition and siblings age 7-17 years old
Survey Link: https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8
Questions: Email abigail.turnwald@cchmc.org
CURE SYNGAP1 Supporting SYNGAP1 Siblings webpage: cureSYNGAP1.org/Sibs
COMBINEDBrain Roadshow – Biorepository (2023)
Closed
Funding: N/A
Inclusion Criteria: SYNGAP1 diagnosis — Unaffected sibling
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
Proteomics – COMBINEDBrain Roadshow – Biorepository for siblings of patients with nonsense mutation
Closed
Funding: N/A
Inclusion Criteria: Age: Under age 12 for both Syngapian and their sibling. Biological sibling of a person diagnosed with SYNGAP1. SYNGAP1 patients must have a nonsense mutation.
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
Quality of Life Impacts of Rare Epilepsy Affecting Patient and Family Life
Closed
Funding: N/A
Inclusion Criteria: Family member living with a rare epilepsy; survey closes at the end of April, 2024
How to sign up: Complete the less-than 15-minute-survey online here
Sleep Intervention Questionnaire
Closed
Funding: N/A
Inclusion Criteria: Caregivers of patients diagnosed with SYNGAP1, all geographies. Quick (2-3 minutes) and anonymous survey.
Development of a Caregiver-Reported Outcome Measure for Neurodevelopmental Disorders
Closed
Funding: N/A
Inclusion Criteria: A diagnosis of SYNGAP1 *All ages
How to sign up: Complete the less-than 15-minute-survey online here.
SYNGAP Seizure Tracker Study
Waitlist
Funding: Praxis
Inclusion Criteria: SYNGAP1 diagnosis & enrolled in Ciitizen
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
Overnight EEG Study
Closed
Funding: N/A
Inclusion Criteria: SYNGAP1 Diagnosis, ages 2-16
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
Eye Tracking Measure for SYNGAP1 that Tracks Thinking Skills & Behavior
Waitlist
Funding: SRF & others
Inclusion Criteria: A diagnosis of SYNGAP1 aged 3-45; will require a participating parent, other family member, or close informant with access to a reliable internet connection
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
Biomarker Study of Children with SYNGAP1 Variants (Boston)
Waitlist
Funding: CURE SYNGAP1
Inclusion Criteria:
How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org
CinEMAS Study
Closed
Funding: N/A
Inclusion Criteria: Aged 1 to 18 years old & diagnosed or suspected to have DOOSE Syndrome aka EMAS (Epilepsy with Myoclonic-Atonic Seizures)
How to sign up: To find out if your child may be eligible for the CinEMAS study, contact a study site location near you. See website for more information: https://cinemasstudy.com/