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

Conditions16P11.2 Deletion Syndrome 16p11.2 Duplications 1Q21.1 Deletion 1Q21.1 Microduplication Syndrome (Disorder)ACTL6B ADNP AHDC1 ANK2 ANKRD11 ARID1B ASH1L BCL11A CHAMP1 CHD2 CHD8 CSNK2A1 CTBP1 CTNNB1 Gene Mutation CUL3 DDX3X DNMT3A DSCAM DYRK1A FOXP1 GRIN2A GRIN2B HIVEP2-Related Intellectual Disability HNRNPH2 KATNAL2 KDM5B KDM6B KMT2C Gene Mutation KMT2E KMT5B MBD5 MED13L PACS1 PPP2R5D-Related Intellectual Disability PTCHD1 REST SCN2A Encephalopathy SETBP1 Gene Mutation SETD5 SMARCA4 Gene Mutation SMARCC2 STXBP1 Encephalopathy With Epilepsy SYNGAP1-Related Intellectual Disability TBR1 ARHGEF9 HNRNPU PPP3CA PPP2R1A SLC6A1 2p16.3 Deletions 5q35 Deletions 5q35 Duplications 7q11.23 Duplications 15Q13.3 Deletion Syndrome 16p11.2 Triplications 16P12.2 Microdeletion 16P13.11 Microdeletion Syndrome (Disorder)17Q12 Microdeletion Syndrome (Disorder)17Q12 Duplication Syndrome 17Q21.31 Deletion Syndrome 17q21.3 Duplications ACTB ADSL AFF2 ALDH5A1 ANK3 ARX ATRX Gene Mutation AUTS2 Syndrome BCKDK BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHD3 CIC CNOT3 CREBBP Gene Mutation CSDE1 CTCF DEAF1 DHCR7 DLG4 EBF3 EHMT1 EP300 Gene Mutation GIGYF1 GRIN1 GRIN2D IQSEC2-Related Syndromic Intellectual Disability IRF2BPL KANSL1 KCNB1 KDM3B NEXMIF KMT2A MBOAT7 MEIS2 MYT1L NAA15 NBEA NCKAP1 NIPBL NLGN2 NLGN3 NLGN4X NR4A2 NRXN1 NRXN2 NSD1 Gene Mutation PHF21A PHF3 PHIP PSMD12 RELN RERE RFX3 RIMS1 RORB SCN1A SETD2 Gene Mutation SHANK2 SIN3A SLC9A6 SON SOX5 SPAST SRCAP TAOK1 TANC2 TCF20 TLK2 TRIO TRIP12 UPF3B USP9X VPS13B WAC WDFY3 ZBTB20 ZNF292 ZNF462 2Q37 Deletion Syndrome 9q34 Duplications 15q15 Deletions 15Q24 Deletion NR3C2 SYNCRIP 2q37.3 Deletion 6q16 Deletion 15q11.2 BP1-BP2 Deletion 16p13.3 Deletion 17Q11.2 Microduplication Syndrome (Disorder)17p13.3 Xq28 Duplication CLCN4 CSNK2B DYNC1H1 EIF3F GNB1 MED13 MEF2C RALGAPB SCN1B YY1 Xp11.22 Duplication PACS2 MAOA MAOB HNRNPC HNRNPD HNRNPK HNRNPR HNRNPUL2 5P Deletion Syndrome TCF7L2 Gene Mutation HECW2 PPM1D RNU4-2 SNAP25 FOXP2 ITSN1

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorSimons Searchlight

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

None

Trial population

The study continues to enroll and collect data from people who have the copy number variants, also called CNVs, and gene changes, specified above. Data is also collected from matched sibling control subjects and parents. This study has already collected data on approximately 7,000 participants, including approximately 4,000 carriers. Participants include people who have a gene change and at least one parent or guardian. Participants can also include multiple people who have a gene change and are within the same family. Study aims to enroll up to 100,000 participants.

Trial design

Design model

Family-based

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

100,000 Participants

are grouped into 2 trial groups

Group A: Copy Number Variants

Group B: Gene Variants

Trial outcomes

Primary outcomes

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.

Time frame

Baseline data is collected over the course of one month, on average.

Secondary outcomes

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.

Time frame

Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Simons Searchlight

Lead sponsor

Geisinger Clinic

Collaborator

Boston Children's Hospital

Collaborator

Simons Foundation

Collaborator

Source ClinicalTrials.gov

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

About this trial

Eligibility criteria

Qualifiers

Disqualifiers

Trial population

Trial design

Treatments tested in this trial

Trial groups

Trial outcomes

Primary outcomes

Secondary outcomes

Other outcomes

Sponsors and contacts