Genetic DiseasesNCT02160938
Prenatal Microarray Follow-Up Study
An observational study of Genetic Diseases, run by Columbia University at 9 sites in United States.
Trial summary
The objectives of this multi-center collaborative study are to ascertain the frequency of specific copy number variants (CNVs) identified prenatally and to evaluate in detail through continued follow-up of the children the phenotypes associated with CNVs of known or uncertain clinical significance. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Diseases
- What is being tested?
- 3-year follow-up
- Type of treatment
- Injection or infusion
- How many people
- 184 participants
- Where
- 9 sitesUnited States
- Study dates
- Feb 2013to Dec 2018
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Women undergoing prenatal microarray testing during pregnancy.
Who may be able to join
- Singleton or multi-fetal pregnancy with a prenatal invasive procedure resulting in a diagnosis by microarray analysis of a microdeletion/duplication less than 10 Mbs, either pathogenic or of uncertain significance, which is reported to the patient. This includes:
- Infants diagnosed during prenatal diagnostic studies performed at the10 pre-specified prenatal diagnostic centers
- Infants diagnosed by analysis of microarrays performed at the collaborating laboratories
- Infants referred through the Prenatal Microarray Resource Center website
- Children who will be at least 3 years of age by January of 2018, and who had a prenatally detected CNV <10 Mbs, either pathogenic or of uncertain significance OR
- Children whose mothers were enrolled in the initial study (through July 2011) and who met inclusion criteria for follow-up in that phase, referred to as the "Index cohort". This includes:
- CNVs of uncertain or known significance, some of which were not reported to the patient
- Mosaic findings by karyotype and/or microarray alone.
Who cannot join
- Patient refusal to allow infant follow-up through the age of three
- Patient not fluent in the English language
- Patient under the age of 18
- In surrogate pregnancies, the "rearing parents" are unavailable to give consent.
Trial locations and contacts
9 sites in 1 country.
9 sites in 1 country
United States9 sites
Geisinger Health System
Danville, Pennsylvania, 17822
Montefiore Medical Center
Larchmont, New York, 10538
Center for Fetal Medicine
Los Angeles, California, 90048
North Shore LIJ
Manhasset, New York, 11030
Mt. Sinai Medical Center
New York, New York, 10029
Columbia University
New York, New York, 10032
OB/GYN Services PC
New York, New York, 10075
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
George Washington University Biostatistics Center
Rockville, Maryland, 20852
About this study
Official title: Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up
The objectives of this multi-center collaborative study are to ascertain the frequency of specific copy number variants (CNVs) identified prenatally and to evaluate in detail through continued follow-up of the children the phenotypes associated with CNVs of known or uncertain clinical significance.
Read the detailed description
Specifically the aims are as follows:
- Determine the intellectual function of the children at age 3 years
- Determine phenotypic characteristics other than intellectual function of the children at age 3 years
- Determine the frequency of specific copy number variants discovered during routine prenatal diagnostic testing
- Evaluate the educational, counseling and psychosocial implications of microarray testing as it is introduced as a standard prenatal diagnostic procedure.
- Conditions
- Genetic Diseases
- Being tested
- 3-year follow-up
- Keywords
- microarray, prenatal, copy number variant, CNV, microdeletion, microduplication, genetic
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
3-year follow-upOther
When the infants reach 24 months of age, the Study Follow-up Specialist will send all participants an age- appropriate Ages and Stages Questionnaire (ASQ) for completion.
At the age of 3, the following exams will be performed and are described below:
- The Vineland-II Adaptive Behavior Scale (VABS)
- Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV), or Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V, for siblings older than 7 years 7 months, when necessary)
- Children will also be photographed (for review by the study dysmorphologist)
| Study group | Role | What they receive |
|---|---|---|
| 3 year follow-up cohort | When the infants reach 24 months of age, the Study Follow-up Specialist will send all participants an age- appropriate Ages and Stages Questionnaire (ASQ) for completion.
At as close to the age of 3 as possible, the following exams will be performed and are described below:
* The Vineland-II Adaptive Behavior Scale (VABS)
* Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV), or Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V, for siblings older than 7 years 7 months, when necessary)
* Children will also be photographed (for review by the study dysmorphologist) Receives: Other: 3-year follow-up | |
| Limited follow-up cohort | Women with children who will not reach the age of 2 years 6 months by the end of our study but have a prenatally diagnosed CNV will be recruited into the limited follow-up study. Each center will describe the study to eligible women and will verbally obtain their permission to be contacted by the Study Follow-up Specialist. The Study Follow-Up Specialist will contact the patient, explain the study, and obtain full written informed consent. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Full Scale Intelligence Quotient (IQ) score
Full Scale IQ score from the Wechsler Preschool and Primary Scale of Intelligence IV or Wechsler Intelligence Scale for Children 5th edition
Measured: age 3 years
Secondary outcomes (16)
Percent of subjects with specific commonly occurring CNVs
Measured: detected prenatally
Percent of subjects with seizure disorders
Measured: age: up to 3 years
Percent of subjects with cerebral palsy
Measured: age: up to 3 years
Percent of subjects with dysmorphic features diagnosed by dysmorphologist
Measured: age 3 years
Percent of subjects with structural anomalies
Measured: age: up to 3 years
Verbal Comprehension composite score
Verbal Comprehension composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Measured: age: up to 3 years
Visual Spatial composite score
Visual Spatial composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Measured: age: up to 3 years
Working Memory composite score
Working Memory composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Measured: age: up to 3 years
Communication domain score
Communication domain score from the Vineland Adaptive Behavior Scale
Measured: age: up to 3 years
Daily Living Skills domain score
Daily Living Skills domain score from the Vineland Adaptive Behavior Scale
Measured: age: up to 3 years
Socialization domain score
Socialization domain score from the Vineland Adaptive Behavior Scale
Measured: age: up to 3 years
Motor Skills domain score
Motor Skills domain score from the Vineland Adaptive Behavior Scale
Measured: age: up to 3 years
Adaptive Behavior Composite score
Adaptive Behavior Composite score from the Vineland Adaptive Behavior Scale
Measured: age: up to 3 years
Age-adjusted Z scores for birth weight
Measured: birth
Age-adjusted Z scores for birth length
Measured: birth
Age-adjusted Z scores for head circumference
Measured: birth
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jun 2014 (estimated)
- Study startFeb 2013
- Primary completionDec 2018
- Study completionDec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Genetic DiseasesStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 184 participants (actual)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Human Genome Research Institute (NHGRI)
- Responsible party
- Principal investigator, Ronald J Wapner, MD, Columbia University
- Investigators
- Ronald Wapner, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02160938
- Sponsor's protocol ID
- AAAL0100
- Other IDs
- 5U01HD055651
- Status last verified
- Mar 2019
- First submitted
- 10 Jun 2014
- Last updated
- 25 Mar 2019
- Results posted
- No
- Data monitoring committee
- No
Publications
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.
PubMed 23215555Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013 Feb;15(2):139-45. doi: 10.1038/gim.2012.113. Epub 2012 Sep 6.
PubMed 22955112Bernhardt BA, Kellom K, Barbarese A, Faucett WA, Wapner RJ. An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing. J Genet Couns. 2014 Dec;23(6):938-47. doi: 10.1007/s10897-014-9702-y. Epub 2014 Feb 27.
PubMed 24569858
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up
- ClinicalTrials.gov ID
- NCT02160938
- Acronym / sponsor ID
- AAAL0100
- Conditions
- Genetic Diseases
- Keywords
- microarray, prenatal, copy number variant, CNV, microdeletion, microduplication, genetic
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 184 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Human Genome Research Institute (NHGRI)
- Study start
- Feb 2013
- Primary completion
- Dec 2018 (actual)
- Study completion
- Dec 2018 (actual)
- First posted
- 11 Jun 2014 (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 objectives of this multi-center collaborative study are to ascertain the frequency of specific copy number variants (CNVs) identified prenatally and to evaluate in detail through continued follow-up of the children the phenotypes associated with CNVs of known or uncertain clinical significance.
Detailed description
Specifically the aims are as follows:
- Determine the intellectual function of the children at age 3 years
- Determine phenotypic characteristics other than intellectual function of the children at age 3 years
- Determine the frequency of specific copy number variants discovered during routine prenatal diagnostic testing
- Evaluate the educational, counseling and psychosocial implications of microarray testing as it is introduced as a standard prenatal diagnostic procedure.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 3 year follow-up cohort | – | Other: 3-year follow-upWhen the infants reach 24 months of age, the Study Follow-up Specialist will send all participants an age- appropriate Ages and Stages Questionnaire (ASQ) for completion. At as close to the age of 3 as possible, the following exams will be performed and are described below: * The Vineland-II Adaptive Behavior Scale (VABS) * Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV), or Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V, for siblings older than 7 years 7 months, when necessary) * Children will also be photographed (for review by the study dysmorphologist) |
| Limited follow-up cohort | – | –Women with children who will not reach the age of 2 years 6 months by the end of our study but have a prenatally diagnosed CNV will be recruited into the limited follow-up study. Each center will describe the study to eligible women and will verbally obtain their permission to be contacted by the Study Follow-up Specialist. The Study Follow-Up Specialist will contact the patient, explain the study, and obtain full written informed consent. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Women undergoing prenatal microarray testing during pregnancy.
Key inclusion criteria (8 listed)
- Singleton or multi-fetal pregnancy with a prenatal invasive procedure resulting in a diagnosis by microarray analysis of a microdeletion/duplication less than 10 Mbs, either pathogenic or of uncertain significance, which is reported to the patient. This includes:
- Children whose mothers were enrolled in the initial study (through July 2011) and who met inclusion criteria for follow-up in that phase, referred to as the "Index cohort". This includes:
Key exclusion criteria (4 listed)
- Patient refusal to allow infant follow-up through the age of three
- Patient not fluent in the English language
- Patient under the age of 18
- In surrogate pregnancies, the "rearing parents" are unavailable to give consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 3-year follow-upWhen the infants reach 24 months of age, the Study Follow-up Specialist will send all participants an age- appropriate Ages and Stages Questionnaire (ASQ) for completion. At the age of 3, the following exams will be performed and are described below: * The Vineland-II Adaptive Behavior Scale (VABS) * Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV), or Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V, for siblings older than 7 years 7 months, when necessary) * Children will also be photographed (for review by the study dysmorphologist) | Other | 3 year follow-up cohort |
Primary outcome
Full Scale Intelligence Quotient (IQ) score
Time frame: age 3 years
Full Scale IQ score from the Wechsler Preschool and Primary Scale of Intelligence IV or Wechsler Intelligence Scale for Children 5th edition
16 secondary outcomes
Percent of subjects with specific commonly occurring CNVs
Time frame: detected prenatally
Percent of subjects with seizure disorders
Time frame: age: up to 3 years
Percent of subjects with cerebral palsy
Time frame: age: up to 3 years
Percent of subjects with dysmorphic features diagnosed by dysmorphologist
Time frame: age 3 years
Percent of subjects with structural anomalies
Time frame: age: up to 3 years
Verbal Comprehension composite score
Time frame: age: up to 3 years
Visual Spatial composite score
Time frame: age: up to 3 years
Working Memory composite score
Time frame: age: up to 3 years
Communication domain score
Time frame: age: up to 3 years
Daily Living Skills domain score
Time frame: age: up to 3 years
Socialization domain score
Time frame: age: up to 3 years
Motor Skills domain score
Time frame: age: up to 3 years
Adaptive Behavior Composite score
Time frame: age: up to 3 years
Age-adjusted Z scores for birth weight
Time frame: birth
Age-adjusted Z scores for birth length
Time frame: birth
Age-adjusted Z scores for head circumference
Time frame: birth
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Mar 2019.
- Background: PubMed 23215555Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.
- Background: PubMed 22955112Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013 Feb;15(2):139-45. doi: 10.1038/gim.2012.113. Epub 2012 Sep 6.
- Results publication: PubMed 24569858Bernhardt BA, Kellom K, Barbarese A, Faucett WA, Wapner RJ. An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing. J Genet Couns. 2014 Dec;23(6):938-47. doi: 10.1007/s10897-014-9702-y. Epub 2014 Feb 27.
- An online community providing information about prenatal chromosome microarray testing for both patients and providers with the goal of engaging families in research.Link provided by the sponsor.
Related trials for Genetic Diseases
RecruitingObservational study
Deciphering the Genetic Architecture of Autoimmune Diseases
Autoimmune Diseases
Not yet recruiting
Executive Function Play Opportunities for Children With Down Syndrome
Down Syndrome, Trisomy 21
Not yet recruitingPhase 1/2
4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma
Neuroblastoma
RecruitingObservational study
Southeast Asian Brugada Syndrome Cohort
Brugada Syndrome
Not yet recruitingObservational study
Clinical Genetics Branch Eligibility Screening Survey
Melanoma, Li-Fraumeni Syndrome
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. This study is not recruiting at the moment.
Ronald Wapner, MD principal investigator
Columbia University
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Diseases, run by Columbia University at 9 sites 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 8 inclusion and 4 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: finished, as of the sponsor's last update on 25 Mar 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Full Scale Intelligence Quotient (IQ) score (time frame: age 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02160938, which also lists 3 linked publications.
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 25 Mar 2019.