Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
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- STATUS
- Recruiting
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- End date
- Oct 3, 2050
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- participants needed
- 5000
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- sponsor
- Simons Searchlight
Summary
Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. 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.
Description
Simons Searchlight has expanded over the last several years to include additional gene changes and participation through remote formats, either online or by phone. This allows English and Spanish-speaking families from across the world to participate at times that are convenient to their schedule. Participants can donate blood, saliva, or both. These samples are then linked to medical, behavioral, learning, and developmental data in order to understand the effects of specific gene changes.
Information provided by participants will be stripped of any personal identifying information and made available to qualified scientists around the world.
The Simons Foundation, a New York-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of people who have genetic and developmental differences.
Details
| Condition | MED12 Gene Mutation, 9q34 Duplications, GRIN1, EIF3F, Xp11.22 Duplication, SMARCC2, NAA15, PBRM1, CHD2, KDM6B, TCF20, RORB, SETD5, 8P23.1 Duplication Syndrome (Disorder), HIVEP2-Related Intellectual Disability, RIMS1, RIT1, DMPK, 22Q13.3 Deletion Syndrome, 17Q11.2 Microduplication Syndrome (Disorder), ADSL, NRXN1, KCNQ2, 5q35 Duplications, 15q11.2-q13.1 Deletions, SCN8A, SOX5, 17q21.3 Duplications, TSC1, SCN8A Encephalopathy, CTBP1, T-Cell-Specific Transcription Factor 4, AUTS2 Syndrome, 6q16 Deletion, CSNK2A1, SCN2A Encephalopathy, 1Q21.1 Deletion, SETD2, SHANK3, 2p16.3 Deletions, CDKL5 Disorder, 3q29 Deletions, 16p13.3 Deletions, TSC2, ANK2, TSHZ3, MBD5, 7q11.23 Duplications, ZNF462, UPF3B, MEIS2, ANKRD11, CTNNB1 Gene Mutation, CHAMP1, 17q12 Deletions, PPP2B, HNRNPH2, CDKL5, SETBP1 Gene Mutation, 15q15 Deletions, HIVEP2, 17p13.3, DiGeorge Syndrome, EBF3, 1Q21.1 Microduplication Syndrome (Disorder), beta catenin, PTPN11 Gene Mutation, ATRX Gene Mutation, KCNQ3, CNOT3, AUTS2, 17Q12 Duplication Syndrome, EHMT1, PPP2R1A, KDM3B, RAI1, 5q35 Deletions, KMT2E, DEAF1, TRIP12, TSC2 Gene Mutation, KRAS gene, Rest, PHF3, 7q11.23 Deletions, 22Q11.2 Duplication, 2Q37 Deletion Syndrome, CREBBP, CTCF, KMT2A, 17P11.2 Duplication Syndrome, ZNF292, SCN1B, NSD1 Gene Mutation, SOS1, CAPRIN1, CHD7, CIC, NRXN2, PPP3CA, RERE, 5q24 Deletions, Neurofibromatosis Type 1 Protein, IRF2BPL, NR4A2, SIN3A, SMARCA4 Gene Mutation, Additional Genetic Changes Associated With Autism May be Added as Identified, 16p11.2 Triplications, CSDE1, IQSEC2, ASH1L, ARID1B, PPP1CB, ARX, NLGN4X, CUL3, NCKAP1, von Recklinghausen's Disease, KIAA2022, DYRK1A, 2q34 Duplication, CSNK2B, MED13, CACNA1C, DYNC1H1, SETD2 Gene Mutation, NF1 gene, SYNCRIP, VPS13B, 16P12.2 Microdeletion, ANK3, MYT1L, ACTB, AHDC1, PPP2R5D, TANC2, TBR1, GRIN2A, 1q21.1 Duplications, Cri du chat syndrome, SCN2A, 8p23.1 Deletions, braf, CASK, EP300, PPP2R5D-Related Intellectual Disability, STXBP1, SLC6A1, DLG4, PCDH19, SETBP1, 17p11.2 Deletions, NEXMIF, CLCN4, TSC1 Gene Mutation, NIPBL, CASZ1, UBE3A, RALGAPB, PURA, Mineralocorticoid Receptor, 3q29 Duplications, FMR1, SLC9A6 (NHE6), SPAST, 16P11.2 Deletion Syndrome, PACS1, MAP2K2 Gene Mutation, 16p13.3 Deletion, ALDH5A1, HNRNPU, SMARCA4 (BAF190), PPP3CA (PPP2B), ZBTB20, Daughter, BCL11A, Proto-Oncogene Proteins p21(ras), 15q11.2-q13.1 Duplications, PHIP, POMGNT1, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, Xq28 Duplication, NRXN3, 15Q13.3 Deletion Syndrome, TRIO, MECP2-Related Severe Neonatal Encephalopathy, DSCAM, PTEN Gene Mutation, FOXG1 Syndrome, DHCR7, 15q11.2 BP1-BP2 Deletion, KATNAL2, PTEN, DNMT3A, KMT5B (Previously SUV420H1), 17Q12 Microdeletion Syndrome (Disorder), ADNP, NLGN2, MAGEL2, PSMD12, MAP2K1 Gene Mutation, RFX3, TLK2, 5q15 Deletions, 16p11.2 Deletions, GRIN2B, BAZ2B, TAOK1, NBEA, 17Q21.31 Deletion Syndrome, CHD8, HRAS Gene Mutation, PHF21A, SYNGAP1, TBCK, 8P23.1 Duplication Syndrome, KMT5B, 15Q24 Deletion, RELN, GNB1, BRAF Gene Mutation, MED13L, KCNQ2-Related Epileptic Encephalopathy, SRCAP, ACTL6B, BRSK2, SHANK2, WAC, 2q37.3 Deletion, 16p12.1 Deletions, 1q21.1 Deletions, 17q11.2 Duplications, YY1, DST, DST (Dystonin) Related Epidermolysis Bullosa Simplex, RAF1 Gene Mutation, 16P13.11 Microdeletion Syndrome (Disorder), WDFY3, SLC9A6, NLGN3, GIGYF1, LZTR1, USP9X, EP300 Gene Mutation, AFF2, KMT2C Gene Mutation, ASXL3, SMARCC1, CREBBP Gene Mutation, PTCHD1, KANSL1, KDM5B, Methyl-CpG-Binding Protein 2, 17q21.3 Deletions, IQSEC2-Related Syndromic Intellectual Disability, KMT2C, 17q11.2 Deletions, ATRX, ASXL1 Gene Mutation, SOS2, BCKDK, KAT6A, MBOAT7, CHD3, GIGYF2, ARHGEF9, POGZ, KCNB1, GRIN2D, SHOC2, NF1 Mutation, 16p11.2 Duplications, DDX3X, SCN1A, MEF2C, FOXP1 |
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| Clinical Study Identifier | NCT01238250 |
| Sponsor | Simons Searchlight |
| Last Modified on | 3 October 2021 |
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