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Search / Trial NCT01238250

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Launched by SIMONS SEARCHLIGHT · Nov 9, 2010

Trial Information

Current as of May 08, 2025

Recruiting

Keywords

16p11.2 16p11.2 Del 16p11.2 Deletion 16p11.2 Dup 16p11.2 Duplication Chromosome 16 Chromosome 16p Chromosome 16p11 Chromosome 16p11.2 1q21.1 1q21.1 Del 1q21.1 Deletion 1q21.1 Dup 1q21.1 Duplication Chromosome 1 Chromosome 1q Chromosome 1q21 Chromosome 1q21.1 Genetic Mutation Genetic Variant Gene Variant Adnp Ankrd11 Arid1 B Asxl3 Actl6 B Ahdc1 Baf190 Ank2 Ash1 L Bcl11 A Chd2 Chd8 Ctnnb1 Cul3 Dyrk1 A Foxp1 Grin2 B Kdm6 B Kmt2 E Mbd5 Med13 L Rest Scn2 A Smarcc2 Syngap1 Hivep2 Hnrnph2 Ppp2 R5 D Champ1 Csnk2 A1 Ctbp1 Ddx3 X Dnmt3 A Dscam Grin2 A Katnal2 Kdm5 B Kmt2 C Kmt5 B Suv420 H1 Pacs1 Ptchd1 Setbp1 Setd5 Smarca4 Stxbp1 Tbr1 Arhgef9 Hnrnpu Ppp2 B Ppp2 R1 A Slc6 A1 Pacs2 Maoa Maob Hnrnpc Hnrnpd Hnrnpk Hnrnpr Hnrnpul2 5 P Deletion Syndrome Tcf7 L2 Hecw2

ClinConnect Summary

The Simons Searchlight study is an online research program aimed at understanding how certain rare genetic changes relate to neurodevelopmental disorders and autism. This study collects important information about the health, behavior, learning, and development of individuals with specific genetic conditions. By partnering with families, the study hopes to improve clinical care and treatment options for those affected by these conditions.

Anyone of any age who has a genetic condition listed as eligible can participate, along with their family members. It's important that participants are fluent in English or one of the supported languages, which include Spanish, French, and Dutch. Participants will be able to join the study online using any device with internet access, and they will need to provide consent to take part. The study is currently recruiting, so if you or a family member have one of the eligible genetic conditions, this could be a valuable opportunity to contribute to important research.

Gender

ALL

Eligibility criteria

  • 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.

About Simons Searchlight

Simons Searchlight is a pioneering clinical trial sponsor dedicated to advancing research and therapeutic development for neurodevelopmental disorders, particularly those associated with genetic mutations. With a focus on leveraging innovative methodologies and collaborative partnerships, Simons Searchlight aims to enhance understanding of these conditions, facilitate patient recruitment, and accelerate the delivery of effective treatments. By integrating cutting-edge science with a commitment to community engagement, the organization strives to improve outcomes for individuals and families affected by rare genetic disorders.

Locations

Boston, Massachusetts, United States

New York, New York, United States

Lewisburg, Pennsylvania, United States

Patients applied

0 patients applied

Trial Officials

Cora Taylor, PhD

Principal Investigator

Geisinger Clinic

Wendy Chung, MD PhD

Principal Investigator

Boston Children's Hospital

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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