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

NCT ID NCT01238250

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 100,000 people

The number the study aims to enrol. It can still change while the study runs.

Start date

Oct 2010

Expected to finish

Oct 2050

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 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. Exclusion Criteria: -Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    2 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Geisinger Health System

    RECRUITING

    Lewisburg, Pennsylvania, 17837, United States

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