Microdeletion SyndromesMicrodel TriadNCT02109770
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
An observational study of Microdeletion Syndromes and Trisomy 21, run by Natera, Inc. at 2 sites in United States.
Trial summary
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Microdeletion Syndromes, Trisomy 21, Trisomy 18
- How many people
- 216 participants
- Where
- 2 sitesUnited States
- Study dates
- Oct 2012to Aug 2019
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Families with a child affected by a chromosomal abnormality.
Who may be able to join
- Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau syndrome).
- Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47, XYY).
- Couples who have a child diagnosed with a microdeletion/duplication syndrome (a positive microarray test).
Who cannot join
- Not an English language or Spanish language speaker
- Genetics report is not available
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Children's Hospital Of Philadelphia
Philadelphia, Pennsylvania, 19104
Natera
San Carlos, California, 94070
About this study
Official title: Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.
Read the detailed description
The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. To assist with the development of the test, we will need to collect blood samples from women whose child was diagnosed with a genetic or MD/D syndrome, a blood sample from that child as well as a blood sample from their confirmed unaffected siblings. Since the test is based on Natera's Parental Support™ technology, buccal or blood samples from the biological fathers will also be requested.
A recent abstract from a five year study on prenatal microarray testing revealed that 1.6% of women who present for routine prenatal indications have a positive microarray test. With the frequency of microdeletions and microduplications (MD/D) now known to be higher than previously thought, the field is likely to move toward offering invasive testing for microarray abnormalities to all pregnant women. Although non-invasive prenatal testing for aneuploidy is now clinically available, it has become clear that non-invasive prenatal testing for MD/D is equally important. However, access to these samples is made difficult as the standard of care for offering microarray analysis to all pregnant women will take time to come to fruition. We would like to develop this non-invasive as the standard of care so that less women will have to undergo invasive testing for the diagnosis of microarray abnormalities. Thus, there is an unmet need for the development of novel tests that would increase the scope of non-invasive prenatal screening.
- Keywords
- 22q, DiGeorge, Angelman, Cri du chat, Miller Dieker, 1p36, Phelan McDermid, Prader Willi, Wolf Hirschorn, Smith Magenis, Trisomy 21, Down syndrome, Trisomy 18, Edwards syndrome, Trisomy 13, Patau syndrome, Monosomy X, Turner syndrome, XXY, Klinefelter syndrome
- Medical subject headings
- Down Syndrome, Trisomy 18 Syndrome, Trisomy 13 Syndrome, Sex Chromosome Aberrations, Turner Syndrome, Klinefelter 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 |
|---|---|---|
| Mother child diads or triads | Families with child affected by genetic anomaly, microdeletion, microduplication, or chromosomal anomaly |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2014 (estimated)
- Study startOct 2012
- Primary completionJun 2019
- Study completionAug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Microdeletion SyndromesStudies of the same condition, open and under way.
- More trials run by Natera, Inc.The 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
- 216 participants (actual)
Sponsor and investigators
- Lead sponsor
- Natera, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Kim Martin, MD, Principal investigator, Natera, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02109770
- Sponsor's protocol ID
- GSN014
- Acronym
- Microdel Triad
- Status last verified
- Aug 2019
- First submitted
- 8 Apr 2014
- Last updated
- 26 Aug 2019
- Results posted
- No
- Data monitoring committee
- No
Publications
Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1-9. doi: 10.1016/j.ajog.2014.11.041. Epub 2014 Dec 2.
PubMed 25479548
Study at a glance
From the registry record, last updated by the sponsor on 26 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood
- ClinicalTrials.gov ID
- NCT02109770
- Acronym / sponsor ID
- Microdel Triad / GSN014
- Keywords
- 22q, DiGeorge, Angelman, Cri du chat, Miller Dieker, 1p36, Phelan McDermid, Prader Willi
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 216 participants (actual)
- Lead sponsor
- Natera, Inc.Industry (pharma, biotech, devices)
- Study start
- Oct 2012 (actual)
- Primary completion
- Jun 2019 (actual)
- Study completion
- Aug 2019 (actual)
- First posted
- 10 Apr 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 purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.
Detailed description
The primary purpose of this study is to collect family triads from families affected by a genetic or microdeletion/duplication (MD/D) syndrome to further develop non-invasive prenatal testing based on fetal DNA isolated from maternal blood. To assist with the development of the test, we will need to collect blood samples from women whose child was diagnosed with a genetic or MD/D syndrome, a blood sample from that child as well as a blood sample from their confirmed unaffected siblings. Since the test is based on Natera's Parental Support™ technology, buccal or blood samples from the biological fathers will also be requested.
A recent abstract from a five year study on prenatal microarray testing revealed that 1.6% of women who present for routine prenatal indications have a positive microarray test. With the frequency of microdeletions and microduplications (MD/D) now known to be higher than previously thought, the field is likely to move toward offering invasive testing for microarray abnormalities to all pregnant women. Although non-invasive prenatal testing for aneuploidy is now clinically available, it has become clear that non-invasive prenatal testing for MD/D is equally important. However, access to these samples is made difficult as the standard of care for offering microarray analysis to all pregnant women will take time to come to fruition. We would like to develop this non-invasive as the standard of care so that less women will have to undergo invasive testing for the diagnosis of microarray abnormalities. Thus, there is an unmet need for the development of novel tests that would increase the scope of non-invasive prenatal screening.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mother child diads or triads | – | –Families with child affected by genetic anomaly, microdeletion, microduplication, or chromosomal anomaly |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Families with a child affected by a chromosomal abnormality.
Key inclusion criteria (3 listed)
- Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau syndrome).
- Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47, XYY).
- Couples who have a child diagnosed with a microdeletion/duplication syndrome (a positive microarray test).
Key exclusion criteria (2 listed)
- Not an English language or Spanish language speaker
- Genetics report is not available
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
Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus
Time frame: 4 years
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 26 Aug 2019.
- Background: PubMed 25479548Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1-9. doi: 10.1016/j.ajog.2014.11.041. Epub 2014 Dec 2.
Related trials for Microdeletion Syndromes
RecruitingObservational study
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
16P11.2 Deletion Syndrome, 16p11.2 Duplications
RecruitingObservational study
The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes
Microdeletion 3q29 Syndrome, Microduplication 3q29 Syndrome
Enrolling by invitation
Palliative Care Needs of Children With Rare Diseases and Their Families
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
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.
Kim Martin, MD principal investigator
Natera, Inc.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Microdeletion Syndromes and Trisomy 21, run by Natera, Inc. at 2 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 3 inclusion and 2 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 26 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 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?
Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus (time frame: 4 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 NCT02109770, which also lists 1 linked publication.
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 26 Aug 2019.