Treatment Trials

2 Clinical Trials for Various Conditions

COMPLETED

Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene

Description

This protocol serves as a data collection tool for individuals with variants (missense, nonsense, frameshifts) in the IRF2BPL gene (MIM 611720), which causes Neurodevelopmental Regression, Seizures, Autism and Developmental Delay (NEDAMSS, MIM 618088) and may be involved in other neurodevelopmental presentations. This information will be analyzed to develop a better understanding of the findings and progression of symptoms in individuals with variants in the IRF2BPL gene.

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RECRUITING

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

Description

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.

Conditions

16P11.2 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 POMGNT1 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 2q34 Duplication 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

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Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene

Description

Conditions

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

Description

Conditions