Multiple AbnormaliesCNV-MCANCT06694896
Microarray Application in Newborns With Multiple Congenital Anomalies
A study testing Microarray Application in people with Multiple Abnormalies, run by Konya City Hospital at 1 site in Turkey (Türkiye).
Trial summary
Objective: Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and have developed prenatally. Microarray is considered the first-tier diagnostic test for patients with multiple congenital anomalies. Read more about this study
- Who is it for?
- Ages 1 day to 30 days
- Conditions the study is for
- Multiple Abnormalies
- What is being tested?
- Microarray Application
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 63 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Dec 2022to 31 Mar 2024
- Phase
- Interventional
- 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 1 day to 30 days
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included
Who cannot join
- Newborns with examination findings suggesting a recognizable numerical chromosome anomaly
- History of teratogenicity
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation
Objective:
Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and have developed prenatally. Microarray is considered the first-tier diagnostic test for patients with multiple congenital anomalies. The aim of this study is to determine the relationship between microarray results and the phenotype in newborns with multiple congenital anomalies, contribute to patient management by comparing with similar cases in the literature, detect previously unidentified Copy Number Variations (CNV), investigate the hereditary origin of the detected changes, and provide appropriate genetic counseling.
Read the detailed description
Method:
Between December 2022 and November 2023, newborns with multiple congenital anomalies requiring follow-up and treatment in the Neonatal Intensive Care Unit of Konya City Hospital were evaluated. Newborns with examination findings suggesting a recognizable numerical chromosome anomaly or a history of teratogenicity were excluded from the study. Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included. Microarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database.
- Conditions
- Multiple Abnormalies
- Being tested
- Microarray Application
- Keywords
- newborn, multipl congenital anomalies, microarray, copy number variant
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Microarray ApplicationDiagnostic test
Microarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database.
| Study group | Role | What they receive |
|---|---|---|
| MCA | Other | Multipl Congenital Anomalies Receives: Diagnostic Test: Microarray Application |
What is being measured
The primary outcome is the main question the study is designed to answer.
Copy Number Variant
Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies
Measured: 1 year
Secondary outcomes (1)
Copy Number Variant
Secondary outcome variable: To investigate the relationship between parental transmission of chromosomal disorders found in newborns with Multiple Congenital Anomalies.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Nov 2024
- Study start1 Dec 2022
- Primary completion29 Nov 2023
- Study completion31 Mar 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Multiple AbnormaliesStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included. Microarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database.
- Masking
- None (open label)
- Enrolment
- 63 participants (actual)
Sponsor and investigators
- Lead sponsor
- Konya City Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, RAMAZAN KEÇECİ, Konya City Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06694896
- Sponsor's protocol ID
- 2022-006
- Acronym
- CNV-MCA
- Status last verified
- Nov 2024
- First submitted
- 10 Nov 2024
- Last updated
- 19 Nov 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: After the study is published, it can be made available to other researchers.
Publications
Szczaluba K, Nowakowska B, Sobecka K, Smyk M, Castaneda J, Klapecki J, Kutkowska-Kazmierczak A, Smigiel R, Bocian E, Radkowski M, Demkow U. Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies. Adv Exp Med Biol. 2016;912:1-9. doi: 10.1007/5584_2016_235.
PubMed 26987320Szczaluba K, Demkow U. Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies. J Appl Genet. 2017 May;58(2):185-198. doi: 10.1007/s13353-016-0376-z. Epub 2016 Nov 18.
PubMed 27858254
Study at a glance
From the registry record, last updated by the sponsor on 19 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation
- ClinicalTrials.gov ID
- NCT06694896
- Acronym / sponsor ID
- CNV-MCA / 2022-006
- Conditions
- Multiple Abnormalies
- Keywords
- newborn, multipl congenital anomalies, microarray, copy number variant
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 63 participants (actual)
- Lead sponsor
- Konya City HospitalUniversity, hospital or other
- Study start
- 1 Dec 2022 (actual)
- Primary completion
- 29 Nov 2023 (actual)
- Study completion
- 31 Mar 2024 (actual)
- First posted
- 19 Nov 2024 (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.
Objective:
Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and have developed prenatally. Microarray is considered the first-tier diagnostic test for patients with multiple congenital anomalies. The aim of this study is to determine the relationship between microarray results and the phenotype in newborns with multiple congenital anomalies, contribute to patient management by comparing with similar cases in the literature, detect previously unidentified Copy Number Variations (CNV), investigate the hereditary origin of the detected changes, and provide appropriate genetic counseling.
Detailed description
Method:
Between December 2022 and November 2023, newborns with multiple congenital anomalies requiring follow-up and treatment in the Neonatal Intensive Care Unit of Konya City Hospital were evaluated. Newborns with examination findings suggesting a recognizable numerical chromosome anomaly or a history of teratogenicity were excluded from the study. Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included. Microarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included. Microarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database.
| Arm | Type | Receives |
|---|---|---|
| MCA | Other | Diagnostic Test: Microarray ApplicationMultipl Congenital Anomalies |
Who may qualify
- Ages
- 1 day to 30 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (1 listed)
- Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included
Key exclusion criteria (2 listed)
- Newborns with examination findings suggesting a recognizable numerical chromosome anomaly
- History of teratogenicity
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 |
|---|---|---|
| Microarray ApplicationMicroarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database. | Diagnostic test | MCA |
Primary outcome
Copy Number Variant
Time frame: 1 year
Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies
1 secondary outcome
Copy Number Variant
Time frame: 1 year
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 19 Nov 2024.
- Background: PubMed 26987320Szczaluba K, Nowakowska B, Sobecka K, Smyk M, Castaneda J, Klapecki J, Kutkowska-Kazmierczak A, Smigiel R, Bocian E, Radkowski M, Demkow U. Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies. Adv Exp Med Biol. 2016;912:1-9. doi: 10.1007/5584_2016_235.
- Background: PubMed 27858254Szczaluba K, Demkow U. Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies. J Appl Genet. 2017 May;58(2):185-198. doi: 10.1007/s13353-016-0376-z. Epub 2016 Nov 18.
- Individual participant dataSharing planned: No. After the study is published, it can be made available to other researchers.
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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Microarray Application in people with Multiple Abnormalies, run by Konya City Hospital at 1 site in Turkey (Türkiye).
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 1 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 19 Nov 2024. 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 Turkey (Türkiye). 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?
Copy Number Variant (time frame: 1 year). 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 NCT06694896, which also lists 2 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 19 Nov 2024.