Can mapping rare genetic variants unlock better care for autism-related disorders?

NCT ID NCT01238250

Recruiting now Knowledge-focused Sponsor: Simons Searchlight Source: ClinicalTrials.gov ↗

First seen Jul 23, 2026 · Last updated Jul 24, 2026 · Updated 1 time

Summary

This international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve clinical care and support future studies. Participants of any age with a qualifying genetic condition, along with their biological family members, can join.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this research could lead to better clinical care and targeted treatments for people with rare genetic neurodevelopmental disorders.
What could go wrong: This is an observational study, not a treatment trial, so it will not directly test any therapy. The large number of rare conditions may make it hard to draw broad conclusions.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

16p13.11 microdeletion syndrome 17q11.2 microduplication syndrome 2q37 microdeletion syndrome autism spectrum disorder due to AUTS2 deficiency chromosome 15q13.3 microdeletion syndrome chromosome 15q24 deletion syndrome chromosome 16p12.2-p11.2 deletion syndrome chromosome 17q12 deletion syndrome chromosome 17q12 duplication syndrome chromosome 1q21.1 deletion syndrome chromosome 1q21.1 duplication syndrome cornea plana 1, autosomal dominant Cri-du-chat syndrome deletion 5q35 developmental and epileptic encephalopathy, 11 developmental and epileptic encephalopathy, 4 hereditary sensory and autonomic neuropathy intellectual disability, autosomal dominant 43 intellectual disability, X-linked 1 Koolen-de Vries syndrome Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome proximal 16p11.2 microdeletion syndrome rhabdoid tumor predisposition syndrome 2 syndromic X-linked intellectual disability Lubs type

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

15Q11.2 BP1-BP2 DELETION 15Q13.3 DELETION SYNDROME 15Q15 DELETIONS 15Q24 DELETION 16P11.2 DELETION SYNDROME 16P11.2 DUPLICATIONS 16P11.2 TRIPLICATIONS 16P12.2 MICRODELETION 16P13.11 MICRODELETION SYNDROME (DISORDER) 16P13.3 DELETION 17P13.3 17Q11.2 MICRODUPLICATION SYNDROME (DISORDER) 17Q12 DUPLICATION SYNDROME 17Q12 MICRODELETION SYNDROME (DISORDER) 17Q21.3 DUPLICATIONS 17Q21.31 DELETION SYNDROME 1Q21.1 DELETION 1Q21.1 MICRODUPLICATION SYNDROME (DISORDER) 2P16.3 DELETIONS 2Q37 DELETION SYNDROME 2Q37.3 DELETION 5P DELETION SYNDROME 5Q35 DELETIONS 5Q35 DUPLICATIONS 6Q16 DELETION 7Q11.23 DUPLICATIONS 9Q34 DUPLICATIONS ACTB ACTL6B ADNP ADSL AFF2 AHDC1 ALDH5A1 ANK2 ANK3 ANKRD11 ARHGEF9 ARID1B ARX ASH1L ATRX GENE MUTATION AUTS2 SYNDROME BCKDK BCL11A BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHAMP1 CHD2 CHD3 CHD8 CIC CLCN4 CNOT3 CREBBP GENE MUTATION CSDE1 CSNK2A1 CSNK2B CTBP1 CTCF CTNNB1 GENE MUTATION CUL3 DDX3X DEAF1 DHCR7 DLG4 DNMT3A DSCAM DYNC1H1 DYRK1A EBF3 EHMT1 EIF3F EP300 GENE MUTATION FOXP1 FOXP2 GIGYF1 GNB1 GRIN1 GRIN2A GRIN2B GRIN2D HECW2 HIVEP2-RELATED INTELLECTUAL DISABILITY HNRNPC HNRNPD HNRNPH2 HNRNPK HNRNPR HNRNPU HNRNPUL2 IQSEC2-RELATED SYNDROMIC INTELLECTUAL DISABILITY IRF2BPL ITSN1 KANSL1 KATNAL2 KCNB1 KDM3B KDM5B KDM6B KMT2A KMT2C GENE MUTATION KMT2E KMT5B MAOA MAOB MBD5 MBOAT7 MED13 MED13L MEF2C MEIS2 MYT1L NAA15 NBEA NCKAP1 NEXMIF NIPBL NLGN2 NLGN3 NLGN4X NR3C2 NR4A2 NRXN1 NRXN2 NSD1 GENE MUTATION PACS1 PACS2 PHF21A PHF3 PHIP PPM1D PPP2R1A PPP2R5D-RELATED INTELLECTUAL DISABILITY PPP3CA PSMD12 PTCHD1 RALGAPB RELN RERE REST RFX3 RIMS1 RNU4-2 RORB SCN1A SCN1B SCN2A ENCEPHALOPATHY SETBP1 GENE MUTATION SETD2 GENE MUTATION SETD5 SHANK2 SIN3A SLC6A1 SLC9A6 SMARCA4 GENE MUTATION SMARCC2 SNAP25 SON SOX5 SPAST SRCAP STXBP1 ENCEPHALOPATHY WITH EPILEPSY SYNCRIP SYNGAP1-RELATED INTELLECTUAL DISABILITY TANC2 TAOK1 TBR1 TCF20 TCF7L2 GENE MUTATION TLK2 TRIO TRIP12 UPF3B USP9X VPS13B WAC WDFY3 XP11.22 DUPLICATION XQ28 DUPLICATION YY1 ZBTB20 ZNF292 ZNF462

Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

Boston Children's Hospital
RECRUITING

Boston, Massachusetts, 02115, United States

Contact Phone: •••-•••-••••
Geisinger Health System
RECRUITING

Lewisburg, Pennsylvania, 17837, United States

Contact Phone: •••-•••-••••

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