Microdeletion 3q29 SyndromeNCT02447861
The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes
An observational study of Microdeletion 3q29 Syndrome and Microduplication 3q29 Syndrome, run by Rutgers, The State University of New Jersey at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Microdeletion 3q29 Syndrome, Microduplication 3q29 Syndrome
- How many people
- 800 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2013to Jan 2028
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Clinically significant medical disease that would prohibit participation in the study procedures
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Teresa Irving contact
United States1 site, 1 recruiting
- Recruiting
Internet-Based
Piscataway, New Jersey, 08854
Jennifer Mulle, MHS, PhD, (848) 445-9866, jennifer.mulle@rutgers.edu
Teresa Irving, MSW, tmi21@cabm.rutgers.edu
About this study
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.
Read the 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.
- Medical subject headings
- Chromosome 3q29 Deletion Syndrome, Chromosome 3q29 Duplication Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Range of medical conditions associated with the 3q29 deletion and duplication, assessed by the percent of patients reporting specific conditions present
A medical questionnaire designed to collect data on commonly reported medical conditions associated with the 3q29 deletion or duplication will be administered.
Measured: 5 years
Secondary outcomes (9)
T-score on the Behavior Rating Inventory of Executive Function (BRIEF)
The BRIEF is a questionnaire designed to assess executive functioning. It is scored on a T-score scale, where higher scores indicate more disability in this domain. Scores range from 0-100, higher scores indicate worse executive function.
Measured: Baseline, 5 years
Score on the Social Responsiveness Scale (SRS)
The SRS is a 65-item, caregiver-rated assessment scale that measures observable items on social behavior and social language use, as well as characteristics of autism in a naturalistic social setting. Each item is rated on a scale from 0 (never true) to 3 (almost always true). The SRS total raw score ranges from 0 to 195; a higher score indicates greater severity of social impairment.
Measured: Baseline, 5 years
Score on the Social Communication Questionnaire (SCQ)
The SCQ is a 40-item, parent-reported screening measure that taps the symptomatology associated with autism spectrum disorder (ASD). The items are in a yes/no format and are translated to scores of 1 (yes) or 0 (no). The threshold reflecting the need for diagnostic assessment is a score of 15. Higher scores are indicative of autism characteristics.
Measured: Baseline, 5 years
Score on the Child Behavior Checklist (CBCL)
The CBCL is a 120-item, parent-reported checklist that includes several competence items, open-ended items for describing the child's illnesses, disabilities, concerns about the child, best things about the child, and several items to rate behavioral, emotional, and social problems. Responses are recorded on a Likert scale: 0 = Not True, 1 = Somewhat or Sometimes True, 2 = Very True or Often True. The standardized score is computed by determining the z-score by subtracting the mean for the subject's age group and gender from the raw score and then dividing this by the standard deviation for the subject's age group and gender. Next, multiply the z-score by 15 and then add 100. For activities scale, social scale, school scale, and total competence scale, higher values indicate higher competencies. For Internalizing problems, externalizing problems, and total problems, higher values indicate more problems.
Measured: Baseline, 5 years
Performance on the Penn Computerized Neurobahavioral Test battery (PennCNB)
The PennCNB is a computerized assessment of domains of cognitive ability. It is scored on a z-score scale, where the mean is 0, positive scores indicate scores above the mean (better performance) and negative scores are below the mean (worse performance). Most acres wil fall between -3 and 3.
Measured: Baseline, 5 years
Prodromal Questionnaire - Brief Version (PQ-B)
The PQ-B is a 21-item self-report screening measure for psychosis risk syndromes. Each item is rated on a five-point Likert scale from 1 (strongly disagree) to 5 (strongly agree). The total score ranges from 0 to 21, where respondents receive 1 point for each "yes" response. The threshold reflecting the need for diagnostic assessment is a score of 3 or higher.
Measured: Baseline, 5 years
Feeding questionnaire
Feeding questionnaire is an 11-item questionnaire to document the specific feeding problems experienced by individuals with 3q29 deletion syndrome.
Measured: Baseline
Structured Interview for Psychosis Risk Syndromes (SIPS)
The Structured Interview for Psychosis Risk Syndromes (SIPS) is a semi-structured interview designed to assess early signs of psychosis. For each scale scores range from 0-6, with higher scores indicating worse performance
Measured: Baseline
Score on the Vineland
The Vineland is a questionnaire designed to assess adaptive behavior. It is scores on a standard scale, where scores range from 0-160 with arena of 100. Higher scores indicated petter performance.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2015 (estimated)
- Study startJul 2013
- Primary completionJan 2028 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Microdeletion 3q29 SyndromeStudies of the same condition, open and under way.
- More trials run by Rutgers, The State University of New JerseyThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 800 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Rutgers, The State University of New Jersey
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jennifer Gladys Mulle, MHS, PhD, Rutgers, The State University of New Jersey
- Investigators
- Jennifer Mulle, MHS, PhD, Principal investigator, Rutgers University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02447861
- Sponsor's protocol ID
- Pro2021001976
- Status last verified
- May 2026
- First submitted
- 15 May 2015
- Last updated
- 20 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes
- ClinicalTrials.gov ID
- NCT02447861
- Acronym / sponsor ID
- Pro2021001976
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 800 participants (estimated)
- Lead sponsor
- Rutgers, The State University of New JerseyUniversity, hospital or other
- Study start
- Jul 2013 (actual)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 19 May 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- Clinically significant medical disease that would prohibit participation in the study procedures
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
A medical questionnaire designed to collect data on commonly reported medical conditions associated with the 3q29 deletion or duplication will be administered.
9 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 May 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Teresa Irving contact
Jennifer Mulle, MHS, PhD principal investigator
Rutgers University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Microdeletion 3q29 Syndrome and Microduplication 3q29 Syndrome, run by Rutgers, The State University of New Jersey at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jennifer G Mulle, MHS, PhD ((848) 445-9866, jennifer.mulle@rutgers.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 May 2026.