STXBP1 and SYNGAP1 Related Disorders Natural History Study

Part of paid clinical trials in Palo Alto, California.

Sponsor
Children's Hospital of Philadelphia
Study ID
NCT06555965
Status
Recruiting
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Conditions

  • Genetic Disease
  • STXBP1 Encephalopathy With Epilepsy
  • SYNGAP1-Related Intellectual Disability

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Non-interventional study — OTHER
    There is no planned intervention in this study

Study Details

The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.

Key Dates

Start date
Aug 30, 2023
Status verified
Oct 2025
Primary completion
Aug 30, 2028
Completion
Dec 30, 2028

Study Design

Enrollment
600 participants (estimated)

Arms

  • Arm: STXBP1 cohort
  • Arm: SYNGAP1 cohort

Primary Outcome Measure

Changes in percentiles recorded on clinical assessments over time [ Time Frame: Every 6 months upto 5 years ]

Central Contacts

Locations (5)

FacilityCityStateZIPSite coordinators
Stanford Medicine Children's HealthPalo AltoCalifornia94304
Swetapadma Patnaik
[email protected]
Juliet Knowles, MD (PRINCIPAL_INVESTIGATOR)
Children's Hospital ColoradoAuroraColorado80011
Megan Stringfellow
[email protected]
Andrea Miele, PhD (PRINCIPAL_INVESTIGATOR)
Weill Cornell MedicineNew YorkNew York10065
Millie Stone
[email protected]
Zachary Grinspan, MD (PRINCIPAL_INVESTIGATOR)
The Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19403
Joeylynn Nolan
[email protected]
Ingo Helbig, MD (PRINCIPAL_INVESTIGATOR)
Texas Children's HospitalHoustonTexas77030
Ekaterina Sanchez Romero
[email protected]
Hsiao-Tuan Chao, MD, PhD (PRINCIPAL_INVESTIGATOR)

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