NCT01238250 - Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight | Biotech Hunter

Enrollment

100,000

Participants

Timeline

Start Date

October 31, 2010

Primary Completion Date

October 31, 2050

Study Completion Date

October 31, 2050

Conditions

16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion1Q21.1 Microduplication Syndrome (Disorder)ACTL6BADNPAHDC1ANK2ANKRD11ARID1BASH1LBCL11ACHAMP1CHD2CHD8CSNK2A1CTBP1CTNNB1 Gene MutationCUL3DDX3XDNMT3ADSCAMDYRK1AFOXP1GRIN2AGRIN2BHIVEP2-Related Intellectual DisabilityHNRNPH2KATNAL2KDM5BKDM6BKMT2C Gene MutationKMT2EKMT5BMBD5MED13LPACS1PPP2R5D-Related Intellectual DisabilityPTCHD1RESTSCN2A EncephalopathySETBP1 Gene MutationSETD5SMARCA4 Gene MutationSMARCC2STXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual DisabilityTBR1ARHGEF9HNRNPUPPP3CAPPP2R1ASLC6A12p16.3 Deletions5q35 Deletions5q35 Duplications7q11.23 Duplications15Q13.3 Deletion Syndrome16p11.2 Triplications16P12.2 Microdeletion16P13.11 Microdeletion Syndrome (Disorder)17Q12 Microdeletion Syndrome (Disorder)17Q12 Duplication Syndrome17Q21.31 Deletion Syndrome17q21.3 DuplicationsACTBADSLAFF2ALDH5A1ANK3ARXATRX Gene MutationAUTS2 SyndromeBCKDKBRSK2CACNA1CCAPRIN1CASKCASZ1CHD3CICCNOT3CREBBP Gene MutationCSDE1CTCFDEAF1DHCR7DLG4EBF3EHMT1EP300 Gene MutationGIGYF1GRIN1GRIN2DIQSEC2-Related Syndromic Intellectual DisabilityIRF2BPLKANSL1KCNB1KDM3BNEXMIFKMT2AMBOAT7MEIS2MYT1LNAA15NBEANCKAP1NIPBLNLGN2NLGN3NLGN4XNR4A2NRXN1NRXN2NSD1 Gene MutationPHF21APHF3PHIPPOMGNT1PSMD12RELNRERERFX3RIMS1RORBSCN1ASETD2 Gene MutationSHANK2SIN3ASLC9A6SONSOX5SPASTSRCAPTAOK1TANC2TCF20TLK2TRIOTRIP12UPF3BUSP9XVPS13BWACWDFY3ZBTB20ZNF292ZNF4622Q37 Deletion Syndrome9q34 Duplications15q15 Deletions15Q24 DeletionNR3C2SYNCRIP2q34 Duplication2q37.3 Deletion6q16 Deletion15q11.2 BP1-BP2 Deletion16p13.3 Deletion17Q11.2 Microduplication Syndrome (Disorder)17p13.3Xq28 DuplicationCLCN4CSNK2BDYNC1H1EIF3FGNB1MED13MEF2CRALGAPBSCN1BYY1Xp11.22 DuplicationPACS2MAOAMAOBHNRNPCHNRNPDHNRNPKHNRNPRHNRNPUL25P Deletion SyndromeTCF7L2 Gene MutationHECW2

Trial Locations (2)

17837

RECRUITING

Geisinger Health System, Lewisburg

02115

RECRUITING

Boston Children's Hospital, Boston