STXBP1 and SYNGAP1 Related Disorders Natural History Study
NCT ID: NCT06555965
Last Updated: 2025-10-29
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
600 participants
OBSERVATIONAL
2023-08-30
2028-12-30
Brief Summary
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Detailed Description
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Participation may last up to five years and will involve up to 10 study visits. Detailed questions about health and medical history, physical exams, electrographic encephalogram (EEG) or quantitative EEG (qEEG) and some age-appropriate assessments of neurodevelopmental and behavioral function are some of the study procedures. Study procedures will occur during regularly scheduled clinic visits. Participants will undergo assessments at baseline visit and semi-annually (every 6 months for 2-5 years).
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.
The secondary objectives of the study are listed below:
* To evaluate changes in neurodevelopmental and behavioral parameters as assessed by instruments appropriate to the study population.
* To assess the burden of disease by quality-of-life instruments appropriate to the study population.
* To assess the burden of performing multiple outcome measures and scales on the caregiver, participant, and clinical personnel.
* To assess health care resource utilization
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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STXBP1 cohort
Non-interventional study
There is no planned intervention in this study
SYNGAP1 cohort
Non-interventional study
There is no planned intervention in this study
Interventions
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Non-interventional study
There is no planned intervention in this study
Eligibility Criteria
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Inclusion Criteria
* Presence of a STXBP1 or SYNGAP1 gene mutation. The variant in STXBP1 or SYNGAP1 must be classified as causative based on clinical and variant classification criteria. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained, if necessary, at baseline and performed by a CLIA certified laboratory.
Exclusion Criteria
* The presence of a significant non-STXBP1-RD or non-SYNGAP1-RD related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study.
* History of intraventricular hemorrhage, structural brain deficit or congenital heart disease
* The presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of STXBP1-RD or SYNGAP1-RD.
* Pregnant women or females of age of menarche who are found to be pregnant upon urine pregnancy testing.
ALL
No
Sponsors
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STXBP1 Foundation
UNKNOWN
Children's Hospital of Philadelphia
OTHER
Responsible Party
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Principal Investigators
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Ingo Helbig, MD
Role: PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia
Locations
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Stanford Medicine Children's Health
Palo Alto, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
Weill Cornell Medicine
New York, New York, United States
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Texas Children's Hospital
Houston, Texas, United States
Countries
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Central Contacts
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Facility Contacts
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References
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Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, Garcia-Cazorla A, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Moller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327.
Yang P, Broadbent R, Prasad C, Levin S, Goobie S, Knoll JH, Prasad AN. De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures. Front Neurol. 2021 Dec 24;12:804078. doi: 10.3389/fneur.2021.804078. eCollection 2021.
Wang HH, Liao HF, Hsieh CL. Reliability, sensitivity to change, and responsiveness of the peabody developmental motor scales-second edition for children with cerebral palsy. Phys Ther. 2006 Oct;86(10):1351-9. doi: 10.2522/ptj.20050259.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27.
Other Identifiers
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23-021140
Identifier Type: -
Identifier Source: org_study_id
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