NCT02109770

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
216

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Oct 2012

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2012

Completed
1.5 years until next milestone

First Submitted

Initial submission to the registry

April 8, 2014

Completed
2 days until next milestone

First Posted

Study publicly available on registry

April 10, 2014

Completed
5.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2019

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2019

Completed
Last Updated

August 26, 2019

Status Verified

August 1, 2019

Enrollment Period

6.7 years

First QC Date

April 8, 2014

Last Update Submit

August 21, 2019

Conditions

Microdeletion SyndromesTrisomy 21Trisomy 18Trisomy 13Sex Chromosome Abnormalities

Keywords

22qDiGeorgeAngelmanCri du chatMiller Dieker1p36Phelan McDermidPrader WilliWolf HirschornSmith MagenisTrisomy 21Down syndromeTrisomy 18Edwards syndromeTrisomy 13Patau syndromeMonosomy XTurner syndromeXXYKlinefelter syndromeXXXXYY

Outcome Measures

Primary Outcomes (1)

  • Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus

    4 years

Study Arms (1)

Mother child diads or triads

Families with child affected by genetic anomaly, microdeletion, microduplication, or chromosomal anomaly

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Families with a child affected by a chromosomal abnormality.

You may qualify if:

  • 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).

You may not qualify if:

  • Not an English language or Spanish language speaker
  • Genetics report is not available

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Natera

San Carlos, California, 94070, United States

Location

Children's Hospital Of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (1)

  • 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.

    PMID: 25479548BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

* Maternal blood sample * Affected child blood sample * Unaffected sibling blood sample * Father buccal or blood sample

MeSH Terms

Conditions

Down SyndromeTrisomy 18 SyndromeTrisomy 13 SyndromeSex Chromosome AberrationsTurner SyndromeKlinefelter Syndrome

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesChromosome AberrationsPathologic ProcessesPathological Conditions, Signs and SymptomsGonadal DysgenesisDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesSex Chromosome Disorders of Sex DevelopmentMale Urogenital DiseasesSex Chromosome DisordersGonadal DisordersEndocrine System DiseasesHypogonadism

Study Officials

  • Kim Martin, MD

    Natera, Inc.

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 8, 2014

First Posted

April 10, 2014

Study Start

October 1, 2012

Primary Completion

June 1, 2019

Study Completion

August 1, 2019

Last Updated

August 26, 2019

Record last verified: 2019-08

Locations

US(2)