STXBP1 Encephalopathy With Epilepsy Clinical Trial
Official title:
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.
| Status | Recruiting |
| Enrollment | 100000 |
| Est. completion date | October 2050 |
| Est. primary completion date | October 2050 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility | Inclusion Criteria: - Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https://www.simonssearchlight.org/research/what-we-study/ - Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come. - Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet. - Able and willing to provide consent. Exclusion Criteria: -Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently. |
| Country | Name | City | State |
|---|---|---|---|
| United States | Boston Children's Hospital | Boston | Massachusetts |
| United States | Geisinger Health System | Lewisburg | Pennsylvania |
| Lead Sponsor | Collaborator |
|---|---|
| Simons Searchlight | Boston Children's Hospital, Geisinger Clinic, Simons Foundation |
United States,
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147. — View Citation
Simons Vip Consortium. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21. — View Citation
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9. — View Citation
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Mace A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. Erratum In: J Med Genet. 2014 Jul;51(7):478. — View Citation
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Baseline comprehensive collection of medical, behavioral, learning, and developmental information of people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders. | Families with people who have specific documented gene changes that are associated with features of autism and other neurodevelopmental disorders will report detailed medical and family history information by phone. Online research surveys will be used to collect information about behavioral and learning characteristics, with the goal of improving clinical care and treatment for these people. | Baseline data is collected over the course of one month, on average. | |
| Secondary | Longitudinal, or long-term, comprehensive collection of medical, behavioral, learning, and developmental information from people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders. | To monitor and document the development of people who have gene changes that are related to autism and other neurodevelopmental disorders, online research surveys and updates to the family and medical history will be collected on an annual basis. | Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average |
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