Past Studies

Below are SYNGAP1 research studies in which SRF has participated in the past.


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

SRF Supporting SYNGAP1 Siblings webpage: Syngap.Fund/Sibs

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COMBINEDBrain Roadshow – Biorepository

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 SYNGAP 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: SRF

Inclusion Criteria:

How to sign up: Contact Corey Baysden, SRF via corey@curesyngap1.org


CinEMAS Study

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/

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