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The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes

NCT ID: NCT02447861

Last Updated: 2024-12-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

800 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-31

Study Completion Date

2028-01-31

Brief Summary

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The 3q29 deletion syndrome is caused by a deletion of a small part of human chromosome 3, and the duplication syndrome is caused by a duplication of this same small region. The purpose of this study is to understand the medical and behavioral consequences of these syndromes.

Detailed Description

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People with 3q29 deletion syndrome are missing a small part of a region on human chromosome 3, and people with 3q29 duplication syndrome have an extra part of their chromosome 3. Sometimes babies are born with a deletion or duplication of part of human chromosome 3, even though their parents have an intact chromosome 3. This is called de novo (or new) abnormalities.

Conditions

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Microdeletion 3q29 Syndrome Microduplication 3q29 Syndrome

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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3q29 deletion

Individuals with 3q29 deletion syndrome (sometimes called "3q29 micro deletion")

No interventions assigned to this group

3q29 duplication

Individuals with 3q29 duplication syndrome (sometimes called "3q29 micro duplication")

No interventions assigned to this group

Parents

parents of individuals with the 3q29 deletion or 3q29 duplication

No interventions assigned to this group

Healthy Controls

Unrelated age-matched controls without 3q29 deletion or duplication

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Diagnosis of 3q29 deletion or 3q29 duplication
* Consent from parents or guardians or an adult with 3q29 deletion or 3q29 duplication that does not require a legal guardian or an adult who is the healthy sibling of an individual with 3q29 deletion or 3q29 duplication or a healthy age-matched control

Exclusion Criteria

* Clinically significant medical disease that would prohibit participation in the study procedures
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Rutgers, The State University of New Jersey

OTHER

Sponsor Role lead

Responsible Party

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Jennifer Gladys Mulle, MHS, PhD

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Jennifer Mulle, MHS, PhD

Role: PRINCIPAL_INVESTIGATOR

Rutgers University

Locations

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Internet-Based

Piscataway, New Jersey, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Jennifer G Mulle, MHS, PhD

Role: CONTACT

Phone: (848) 445-9866

Email: [email protected]

Teresa Irving

Role: CONTACT

Email: [email protected]

Facility Contacts

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Jennifer Mulle, MHS, PhD

Role: primary

Teresa Irving, MSW

Role: backup

Provided Documents

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Document Type: Informed Consent Form

View Document

Other Identifiers

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Pro2021001976

Identifier Type: -

Identifier Source: org_study_id