Clinical trial NCT02447861: The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes
Official title: The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Microdeletion 3q29 Syndrome
Microduplication 3q29 Syndrome
Lead sponsor: Rutgers, The State University of New Jersey
Sponsor class: OTHER
First posted: 2015-05-19
Enrollment: 800
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Study subjects will be recruited by an internet-based registry. The registry website will be indexed on popular search enginesand potential study subjects can elect to visit the website as they choose. Study population will be individuals with the 3q29 deletion or 3q29 duplication and their family members, although in most cases the primary caregiver of the 3q29 deletion or duplication individual will contribute the data. This study aims to collect data on approximately 200 individuals with the 3q29 deletion and 100 individuals with the 3q29 duplication. For comparison purposes, the study will assess an equal number of matched number of unaffected siblings and control individuals without the 3q29 deletion or duplication.

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.

Detailed description: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Range of medical conditions associated with the 3q29 deletion and duplication, assessed by the percent of patients reporting specific conditions present
timeFrame: 5 years
Secondary outcomes:
measure: T-score on the Behavior Rating Inventory of Executive Function (BRIEF)
timeFrame: Baseline, 5 years
measure: Score on the Social Responsiveness Scale (SRS)
timeFrame: Baseline, 5 years
measure: Score on the Social Communication Questionnaire (SCQ)
timeFrame: Baseline, 5 years
measure: Score on the Child Behavior Checklist (CBCL)
timeFrame: Baseline, 5 years
measure: Performance on the Penn Computerized Neurobahavioral Test battery (PennCNB)
timeFrame: Baseline, 5 years
measure: Prodromal Questionnaire - Brief Version (PQ-B)
timeFrame: Baseline, 5 years
measure: Feeding questionnaire
timeFrame: Baseline
measure: Structured Interview for Psychosis Risk Syndromes (SIPS)
timeFrame: Baseline
measure: Score on the Vineland
timeFrame: 5 years
Other outcomes:
Locations:
city: Piscataway
country: United States
facility: Internet-Based
state: New Jersey
Study officials:
affiliation: Rutgers University
name: Jennifer Mulle, MHS, PhD
role: PRINCIPAL_INVESTIGATOR
References: