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Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02447861
Recruitment Status : Recruiting
First Posted : May 19, 2015
Last Update Posted : January 29, 2020
Information provided by (Responsible Party):
Jennifer Mulle, Emory University

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.

Condition or disease
Microdeletion 3q29 Syndrome Microduplication 3q29 Syndrome

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 600 participants
Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Behavioral, Molecular and Genetic Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome
Study Start Date : July 2013
Estimated Primary Completion Date : March 2021
Estimated Study Completion Date : March 2021

3q29 deletion
Individuals with 3q29 deletion
3q29 duplication
Individuals with 3q29 duplication
Unaffected siblings
Unaffected siblings of 3q29 deletion or duplication individuals
Healthy Controls
Unrelated age-matched controls without 3q29 deletion or duplication

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. Change in Autism Spectrum Screening Questionnaire (ASSQ) [ Time Frame: Baseline, 5 years ]
    The high-functioning ASSQ is a 27-item checklist for completion by lay informants when assessing symptoms characteristic of Asperger syndrome and other high-functioning autism spectrum disorders in children and adolescents with normal intelligence or mild mental retardation. Each question has three possible answers; No, Somewhat, and Yes, and each question has a score from 0 to 2. The highest total score possible is 54, and higher scores are indicative of characteristics of autism and Asperger's.

  2. Change in Social Responsiveness Scale (SRS) [ Time Frame: Baseline, 5 years ]
    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.

  3. Change in Social Communication Questionnaire (SCQ) [ Time Frame: Baseline, 5 years ]
    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.

  4. Change in the Child Behavior Checklist (CBCL) [ Time Frame: Baseline, 5 years ]
    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.

  5. Change in Developmental Profile, version 3 (DP-3) [ Time Frame: Baseline, 5 years ]
    The DP-3 is a 180-item, parent-reported checklist that measures child development. The DP-3 provides scores in five key areas of development: physical, adaptive behavior, social-emotional, cognitive, and communication.The DP-3 provides norm-based scores and information on individual strengths and weaknesses in child development. The DP-3 then shows a comparison of the child's development with other children who are the same age.

  6. Change in Prodromal Questionnaire - Brief Version (PQ-B) [ Time Frame: Baseline, 5 years ]
    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.

  7. Feeding questionnaire [ Time Frame: Baseline ]
    Feeding questionnaire is an 11-item questionnaire to document the specific feeding problems experienced by individuals with 3q29 deletion syndrome.

  8. Caregiver experiences [ Time Frame: Baseline ]
    30 minute qualitative survey (phone interview that will be recorded) to elicit information on the caregiver's experience searching for a diagnosis for their child, thoughts and feelings surrounding these experiences.

  9. Assessment of behavior [ Time Frame: 5 years ]
    A short digital video taken by parents or caregivers under semi-standardized conditions to assess subtle movement disorders, and aberrant aspects of social communication will be analyzed.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02447861

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Contact: Jennifer Mulle, MHS, PhD 404-727-3042

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United States, Georgia
Internet-Based Recruiting
Atlanta, Georgia, United States, 30322
Contact: Jennifer Mulle, MHS, PhD    404-727-0406   
Sponsors and Collaborators
Emory University
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Principal Investigator: Jennifer Mulle, MHS, PhD Emory University
Additional Information:

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Responsible Party: Jennifer Mulle, Assistant Professor, Emory University Identifier: NCT02447861    
Other Study ID Numbers: IRB00064133
First Posted: May 19, 2015    Key Record Dates
Last Update Posted: January 29, 2020
Last Verified: January 2020
Additional relevant MeSH terms:
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Pathologic Processes