Recruiting

Observational Study

Sponsor:

Rutgers, The State University of New Jersey

Code:

NCT02447861

Conditions

Microdeletion 3q29 Syndrome

Microduplication 3q29 Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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.

Conditions

Microdeletion 3q29 Syndrome

Microduplication 3q29 Syndrome

Study ID

NCT02447861

Start date

Jul, 2013

Status verified date

May, 2026

Completion date

Jan, 2028

Anticipated

Primary completion date

Jan, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

800 participants

Anticipated

Interventions and Outcome Measures

Arms

3q29 deletion

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

3q29 duplication

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

Parents

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

Healthy Controls

Unrelated age-matched controls without 3q29 deletion or duplication

Primary outcome measure

  • Range of medical conditions associated with the 3q29 deletion and duplication, assessed by the percent of patients reporting specific conditions present [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Jennifer G Mulle, MHS, PhD

(848) 445-9866jennifer.mulle@rutgers.edu

Teresa Irving

tmi21@cabm.rutgers.edu

Locations

Internet-Based

Recruiting

Piscataway, New Jersey, United States, 08854

Contacts

Jennifer Mulle, MHS, PhD

(848) 445-9866jennifer.mulle@rutgers.edu

Teresa Irving, MSW

tmi21@cabm.rutgers.edu

More Information

Sponsor

Rutgers, The State University of New Jersey

Last update posted

May 20, 2026

Last verified

May, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Rutgers, The State University of New Jersey on 2026-05-20.