Infant, NewbornNCT05325749
Whole Exome Screening of Newborns
An observational study of Infant, Newborn, run by Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare at 1 site in Russia.
Trial summary
The aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn. Two groups of newborns born in RCOGP will be enlisted to the study: 1. newborns without developmental features having no variations according to an inherited diseases screening; 2. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Infant, Newborn
- What is being tested?
- Screening, Family history record and Questionnaire survey
- How many people
- 7,000 participants
- Where
- 1 siteRussia
- Study dates
- 10 Jul 2021to Dec 2022
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: All infants born in the RCOGP or under treatment in an ICU departmetn of the RCOGP
Who may be able to join
- Infants born in the RCOGP, showing no development features and with no inherited diseases revealed by common screening
- Informed consent signed by a newborn's representative
- Infants showing either phenotypic features or deviations according to MS screening
- Informed consent signed by a newborn's representative
Who cannot join
- Parents refuse to participate
- Parent(s) younger 18 years
- Parent(s) unable to make decisions
- The infant is older 30 d
- Blood cannot be collected from the infant
- Group 2 (newborns with phenotypic features)
Show all 12Show fewer
- Parents refuse to participate
- Parent(s) younger 18 years
- Parent(s) unable to make decisions
- Blood cannot be collected from the infant
- Detailed description of the phenotype is not available
- The infant's exome has been already sequenced
Trial locations and contacts
1 site in 1 country.
Russia1 site, 1 recruiting
- Recruiting
Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Moscow, 117997
Elena A Gorodnova, PhD, +7 (495) 531-44-44, e_gorodnova@oparina4.ru
About this study
Official title: Development of the Technology and Methodology for Generation of the Genetic Passport (Genetic Health Record) of Newborn and Application Thereof to Estimate the Mid and Low Penetrance Hereditary Disorders Frequencies in Russian Population and to Uncover Genetic Factors Determining Severe Monogenic Conditions
The aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn.
Two groups of newborns born in RCOGP will be enlisted to the study:
Read more
- newborns without developmental features having no variations according to an inherited diseases screening;
- newborns showing either phenotypic features or deviations according to MS screening.
The residual volume of the cord blood of all newborns form both groups will be collected and subjected to the whole exome sequencing. The sequencing data will be analyzed in "screening" mode for the first group while for the second group analysis will be performed taking the respective phenotype into account.
The study is planned to cover 7000 newborns in total.
- Conditions
- Infant, Newborn
- Being tested
- Screening, Family history record, Questionnaire survey, Diagnostic, Selective screening
- Keywords
- newborn, whole exome, genetic screening
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ScreeningGenetic
Whole exome sequencing will be done and all infants will receive a report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset diseases for which specific care or prevention protocols are available. Families signed additional informed consent will receive an advanced report including variants with no care or prevention available, mid or low risk variants, and variants with late onset or those suggesting relatives to undergo screening.
Family history recordGenetic
Families enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions.
Questionnaire surveyOther
Families invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction.
DiagnosticGenetic
The results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline
Selective screeningGenetic
The results of whole exome sequencing will be analysed according to the data of prenatal ultrasound examination, family history and other available alarming information in addition the the general screening pipeline
| Study group | Role | What they receive |
|---|---|---|
| unaffected | newborns without developmental features having no variations according to an inherited diseases screening; Receives: Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey | |
| affected | newborns showing either phenotypic features or deviations according to MS screening Receives: Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey; Genetic: Diagnostic | |
| refused families | parents refused to enroll their newborns to the study Receives: Other: Questionnaire survey | |
| unaffected born prematurely | newborns without specific developmental features having no variations according to an inherited diseases screening, born before term Receives: Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey; Genetic: Selective screening | |
| unaffected wirh family history | newborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s) Receives: Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey; Genetic: Selective screening | |
| unaffected wirh prenatal phenotype | newborns without developmental features at birth and on, having no variations according to an inherited diseases screening which had been observed to show signs of developmental features during prenatal ultrasound examination Receives: Genetic: Screening; Genetic: Family history record; Other: Questionnaire survey; Genetic: Selective screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Estimate the frequency of revealing patients carrying genotype associated with a monogenic disese.
The manifestation of pathogenic or likely pathogenic variants leading to a monogenic disease presenting during early age.
A genotype is considered having risk of developping a monogenic disease in case pathogenic or probably pathogenic variants are detected corresponding to the inheritance model.
Measured: 3-5 months
Phenotype-associated variants
Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions
Measured: 2 weeks - 2 months
Motivations for refuse to participate
Questionnaire answers provided by families refused to enroll
Measured: 1 day
Acceptance of advanced screening
Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.
Measured: 1 day
Secondary outcomes (3)
Oncological risk
Pathogenic or a likely pathogenic variant causing high risk of developping a cancer
Measured: 1 day
Cardiological risk
Pathogenic or a likely pathogenic variant causing high risk of developping a cardiomyopathy or a sudden cardiac death
Measured: 1 day
Recessive carriers
Inheritance of a pathogenic or a likely pathogenic variant causing to an autosomal recessive disease
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Apr 2022
- Study start10 Jul 2021
- Primary completionDec 2022 (estimated)
- Study completionDec 2022 (estimated)
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 Infant, NewbornStudies of the same condition, open and under way.
- 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
- Cross-sectional
- Enrolment
- 7,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Dmitriy Y Trofimov, DSc, Study director, Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05325749
- Sponsor's protocol ID
- Examen
- Status last verified
- Dec 2021
- First submitted
- 5 Apr 2022
- Last updated
- 13 Apr 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Kochetkova TO, Maslennikov DN, Tolmacheva ER, Shubina J, Bolshakova AS, Suvorova DI, Degtyareva AV, Orlovskaya IV, Kuznetsova MV, Rachkova AA, Sukhikh GT, Rebrikov DV, Trofimov DY. De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes (Basel). 2023 Jan 31;14(2):366. doi: 10.3390/genes14020366.
PubMed 36833293
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of the Technology and Methodology for Generation of the Genetic Passport (Genetic Health Record) of Newborn and Application Thereof to Estimate the Mid and Low Penetrance Hereditary Disorders Frequencies in Russian Population and to Uncover Genetic Factors Determining Severe Monogenic Conditions
- ClinicalTrials.gov ID
- NCT05325749
- Acronym / sponsor ID
- Examen
- Conditions
- Infant, Newborn
- Keywords
- newborn, whole exome, genetic screening
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 7,000 participants (estimated)
- Lead sponsor
- Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of HealthcareOther government
- Study start
- 10 Jul 2021 (actual)
- Primary completion
- Dec 2022 (estimated)
- Study completion
- Dec 2022 (estimated)
- First posted
- 13 Apr 2022 (actual)
- 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 aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn.
Two groups of newborns born in RCOGP will be enlisted to the study:
- newborns without developmental features having no variations according to an inherited diseases screening;
- newborns showing either phenotypic features or deviations according to MS screening.
The residual volume of the cord blood of all newborns form both groups will be collected and subjected to the whole exome sequencing. The sequencing data will be analyzed in "screening" mode for the first group while for the second group analysis will be performed taking the respective phenotype into account.
The study is planned to cover 7000 newborns in total.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| unaffected | – | Genetic: Screening, Genetic: Family history record, Other: Questionnaire surveynewborns without developmental features having no variations according to an inherited diseases screening; |
| affected | – | Genetic: Screening, Genetic: Family history record, Other: Questionnaire survey, Genetic: Diagnosticnewborns showing either phenotypic features or deviations according to MS screening |
| refused families | – | Other: Questionnaire surveyparents refused to enroll their newborns to the study |
| unaffected born prematurely | – | Genetic: Screening, Genetic: Family history record, Other: Questionnaire survey, Genetic: Selective screeningnewborns without specific developmental features having no variations according to an inherited diseases screening, born before term |
| unaffected wirh family history | – | Genetic: Screening, Genetic: Family history record, Other: Questionnaire survey, Genetic: Selective screeningnewborns without developmental features having no variations according to an inherited diseases screening but with affected relative(s) |
| unaffected wirh prenatal phenotype | – | Genetic: Screening, Genetic: Family history record, Other: Questionnaire survey, Genetic: Selective screeningnewborns without developmental features at birth and on, having no variations according to an inherited diseases screening which had been observed to show signs of developmental features during prenatal ultrasound examination |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All infants born in the RCOGP or under treatment in an ICU departmetn of the RCOGP
Key inclusion criteria (4 listed)
- Infants born in the RCOGP, showing no development features and with no inherited diseases revealed by common screening
- Informed consent signed by a newborn's representative
- Infants showing either phenotypic features or deviations according to MS screening
- Informed consent signed by a newborn's representative
Key exclusion criteria (12 listed)
- Parents refuse to participate
- Parent(s) younger 18 years
- Parent(s) unable to make decisions
- The infant is older 30 d
- Blood cannot be collected from the infant
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 |
|---|---|---|
| ScreeningWhole exome sequencing will be done and all infants will receive a report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset diseases for which specific care or prevention protocols are available. Families signed additional informed consent will receive an advanced report including variants with no care or prevention available, mid or low risk variants, and variants with late onset or those suggesting relatives to undergo screening. | Genetic | affected, unaffected, unaffected born prematurely, unaffected wirh family history, unaffected wirh prenatal phenotype |
| Family history recordFamilies enrolled to the study will receive a genetic consult during which a family history will be taken concerning the inherited conditions. | Genetic | affected, unaffected, unaffected born prematurely, unaffected wirh family history, unaffected wirh prenatal phenotype |
| Questionnaire surveyFamilies invited to the study will be asked to undergo a questionnaire survey regarding the reasons to accept or refuse the study, the familiarity of the aims, methods and outcomes of the study as well as the satisfaction. | Other | affected, refused families, unaffected, unaffected born prematurely, unaffected wirh family history, unaffected wirh prenatal phenotype |
| DiagnosticThe results of whole exome sequencing will be analysed according to the infant's phenotype in addition the the general screening pipeline | Genetic | affected |
| Selective screeningThe results of whole exome sequencing will be analysed according to the data of prenatal ultrasound examination, family history and other available alarming information in addition the the general screening pipeline | Genetic | unaffected born prematurely, unaffected wirh family history, unaffected wirh prenatal phenotype |
Primary outcome
Estimate the frequency of revealing patients carrying genotype associated with a monogenic disese.
Time frame: 3-5 months
The manifestation of pathogenic or likely pathogenic variants leading to a monogenic disease presenting during early age. A genotype is considered having risk of developping a monogenic disease in case pathogenic or probably pathogenic variants are detected corresponding to the inheritance model.
Phenotype-associated variants
Time frame: 2 weeks - 2 months
Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions
Motivations for refuse to participate
Time frame: 1 day
Questionnaire answers provided by families refused to enroll
Acceptance of advanced screening
Time frame: 1 day
Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.
3 secondary outcomes
Oncological risk
Time frame: 1 day
Cardiological risk
Time frame: 1 day
Recessive carriers
Time frame: 1 day
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2022.
- Derived from this study: PubMed 36833293Kochetkova TO, Maslennikov DN, Tolmacheva ER, Shubina J, Bolshakova AS, Suvorova DI, Degtyareva AV, Orlovskaya IV, Kuznetsova MV, Rachkova AA, Sukhikh GT, Rebrikov DV, Trofimov DY. De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. Genes (Basel). 2023 Jan 31;14(2):366. doi: 10.3390/genes14020366.
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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.
Dmitriy Y Trofimov, DSc study director
Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
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 Infant, Newborn, run by Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare at 1 site in Russia.
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 4 inclusion and 12 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: status not confirmed, as of the sponsor's last update on 13 Apr 2022. 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 Russia. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Jekaterina Shubina, PhD (+7 926 721-87-17, jekaterina.shubina@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Estimate the frequency of revealing patients carrying genotype associated with a monogenic disese. (time frame: 3-5 months). The study lists 4 primary outcomes in all. 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 NCT05325749, 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 13 Apr 2022.