Studies

Below are SYNGAP1 research studies that SRF has reviewed and encourage families to join.

Development of a Caregiver-Reported Outcome Measure for Neurodevelopmental Disorders

Now Enrolling!

Funding: N/A

Inclusion Criteria: A diagnosis of SYNGAP1 *All ages

How to sign up: Complete the less-than 15-minute-survey online here.


SYNGAP1 Natural History Study at The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at Children’s Hospital of Philadelphia (CHOP)

Now Enrolling!

Funding: N/A

Inclusion Criteria: A diagnosis of SYNGAP1 *All ages

How to sign up: Send your child’s name, age, location to endd@chop.edu with the subject “Syngap1 NHS.” Please cc mike@curesyngap1.org, sydney@curesyngap1.org, lauren@curesyngap1.org, corey@curesyngap1.org

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


Ciitizen Digital Natural History Study

Now Enrolling!

Funding: SRF

Inclusion Criteria: A diagnosis of SYNGAP1

How to sign up: Visit http://www.Ciitizen.com/SYNGAP1/SRF


Tracking Thinking Skills and Behaviors in SYNGAP1 Patients

Now Enrolling!

Funding: N/A

Inclusion Criteria: SYNGAP1 diagnosis between the ages of 2-60; must have a participating parent or other knowledgeable information provider; access to reliable internet connection; access to a tablet, laptop, or desktop computer with a webcam; English is the primary spoken language

How to sign up: Email or call Katie Huba: khuba@jcu.edu or 412.298.8749
Please also contact Corey Baysden, SRF via corey@curesyngap1.org


Understanding SYNGAP1 in Adults

Now Enrolling!

Funding: N/A

Inclusion Criteria: Adult patients only

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


Entendiendo SYNGAP1 en Adultos

inscribirse!

Fondos: N/A

Criterios de inclusión: Solo pacientes adultos

Cómo registrarse: Si esta interesado en participar en este estudio, por favor póngase en contacto con nuestro equipo de investigación escribiendo a: Corey Baysden – corey@curesyngap1.org


Changes Study – an Investigation into Behaviour and Physiology in SYNGAP1

Now Enrolling!

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:

  • 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


COMBINEDBrain Roadshow – Biorepository

Now Enrolling!

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

Now Enrolling!

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


RARE-X SYNGAP1 – Data Collection Program

Now Enrolling!

Funding: Rare-X is a 501(c)(3) who raises their own support.

Inclusion Criteria: SYNGAP1 Diagnosis

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


Cook Children’s SYNGAP1 Research Program

Now Enrolling!

Funding: Cook Children’s Health Foundation

Inclusion Criteria: SYNGAP1 Diagnosis and up to 18 years of age

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


Simons Searchlight Registry for SYNGAP1

Now Enrolling!

Funding: Simons Foundation

Inclusion Criteria: SYNGAP1 diagnosis

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


Communication abilities in children with genetic conditions

Now Enrolling!

Funding: Grant funded

Inclusion Criteria: You are a parent/caregiver of a child diagnosed with a genetic condition. Your child is able to engage in some form of communicative behavior. Your child is 2 years to 15 years 11 months old

How to sign up: Go to: https://sites.google.com/sheffield.ac.uk/genetic-conditions-sheffield/home


National Brain Gene Registry

Now Enrolling!

Funding: N/A

Inclusion Criteria: Patients who have had genetic testing and whose results show a change in any one of hundreds of genes. 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


Sleep Dysfunction in Neurodevelopmental Disorders of Synaptic Origin

Now Enrolling!

Funding: N/A

Inclusion Criteria: Patients diagnosed with SYNGAP1 between the ages of 0-17 years who have had previous overnight/24-hour EEGs or polysomnograms.

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


Observer-Reported Communication Ability (ORCA) Measure

Waitlist

Funding: FDA

Inclusion Criteria: A caregiver or parent of a child between the ages of 1 and 19 with a diagnosis of SYNGAP1; able to speak and read English; able to participate in a 1 hour interview conducted via phone, Zoom, or Webex

How to sign up: Contact Kali Worth, SRF via kali@curesyngap1.org


Project WellCAST: Supporting well-being of caregivers via telehealth

Now Enrolling!

Funding: NIH

Inclusion Criteria: Caregiver (age 18+) of a child ages 2-17 with a documented neurogenetic condition associated with intellectual disability; resident of the US; fluent in English

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


Understanding Rare Genetic Epilepsies

Now Enrolling!

Funding: PI Grants

Inclusion Criteria: 18+ year old with SYNGAP1 diagnosis

How to sign up: Contact Lauren Perry, SRF via lauren@curesyngap1.org


Biomarker Study of Children with SYNGAP1 Variants – UCLA

Now Enrolling!

Funding: SRF

Inclusion Criteria: SYNGAP1 diagnosis; enrolled in Ciitizen

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