The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Microdeletion 3q29 Syndrome, Microduplication 3q29 Syndrome. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- 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]
Secondary outcome measures (9)
- T-score on the Behavior Rating Inventory of Executive Function (BRIEF) [Time frame: Baseline, 5 years]
- Score on the Social Responsiveness Scale (SRS) [Time frame: Baseline, 5 years]
- Score on the Social Communication Questionnaire (SCQ) [Time frame: Baseline, 5 years]
- Score on the Child Behavior Checklist (CBCL) [Time frame: Baseline, 5 years]
- Performance on the Penn Computerized Neurobahavioral Test battery (PennCNB) [Time frame: Baseline, 5 years]
- Prodromal Questionnaire - Brief Version (PQ-B) [Time frame: Baseline, 5 years]
- Feeding questionnaire [Time frame: Baseline]
- Structured Interview for Psychosis Risk Syndromes (SIPS) [Time frame: Baseline]
- Score on the Vineland [Time frame: 5 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
United States · 1 center
- Internet-Based — Piscataway
Identifiers
NCT: NCT02447861 · Pro2021001976