Orofacial CleftsCARTOFENTENCT06880094
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
A study testing blood withdrawal in people with Orofacial Clefts and Next Generation Sequencing (NGS), run by Centre Hospitalier Universitaire, Amiens at 1 site in France.
Trial summary
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors. Chromosomal abnormalities, including structural variations, represent a major cause of human pathology. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Orofacial Clefts, Next Generation Sequencing (NGS), Optical Genome Mapping
- What is being tested?
- blood withdrawal
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 26 participants
- Where
- 1 siteFrance
- Study dates
- 18 Feb 2025to Apr 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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
Who may be able to join
- Individuals with syndromic, complex or familial oral-facial clefts
- With no established genetic diagnosis
- Followed up at the Amiens-Picardie University Hospital
Who cannot join
- genetic diagnosis of oral-facial cleft
- No health insurance affiliation
- Patient under guardianship or curatorship, under safeguard of justice or deprived under public law
- Pregnant, parturient or breast-feeding woman
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHRU Amiens
Amiens, 80480
Benedicte Demeer, MD, 33+322087581, Demeer.Benedicte@chu-amiens.fr
Emilien Colin, MD
About this study
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.
Chromosomal abnormalities, including structural variations, represent a major cause of human pathology. Recently, technological developments and the introduction of next-generation sequencing (NGS) technologies have revolutionized the field of medical genetics.
Optical genome mapping (OGM) is an innovative, high-resolution "long read" technique that enables the identification of all classes of chromosomal variation, consisting in the direct visualization of long, labeled DNA molecules throughout the genome. This technology is gradually becoming an essential tool for studying onco-hematology and constitutional genetic pathologies The purpose of this study is to search for structural chromosomal variants (SV) or copy number variants (CNV) not identifiable either by cytogenetic methods nor by "short read" NGS "short read, in individuals with oral-facial clefts with no genetic diagnosis.
- Being tested
- blood withdrawal
- Keywords
- orofacial clefts, Next Generation Sequencing, Optical Genome Mapping
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood withdrawalGenetic
blood withdrawal for genetic testing
| Study group | Role | What they receive |
|---|---|---|
| patients with syndromic, familial or complex orofacial clefts | Experimental | Not described Receives: Genetic: blood withdrawal |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of a structural chromosomal variant
Identification of a structural chromosomal variant involved in the genesis of orofacial clefts by studying the genetic characteristics of individuals with orofacial clefts.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2025
- Study start18 Feb 2025
- Primary completionApr 2027 (estimated)
- Study completionApr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Orofacial CleftsStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire, AmiensThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 26 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire, Amiens
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06880094
- Sponsor's protocol ID
- PI2023_843_0023
- Acronym
- CARTOFENTE
- Status last verified
- Jan 2026
- First submitted
- 11 Mar 2025
- Last updated
- 16 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
- ClinicalTrials.gov ID
- NCT06880094
- Acronym / sponsor ID
- CARTOFENTE / PI2023_843_0023
- Keywords
- orofacial clefts, Next Generation Sequencing, Optical Genome Mapping
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 26 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire, AmiensUniversity, hospital or other
- Study start
- 18 Feb 2025 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Apr 2027 (estimated)
- First posted
- 17 Mar 2025 (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.
Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.
Chromosomal abnormalities, including structural variations, represent a major cause of human pathology. Recently, technological developments and the introduction of next-generation sequencing (NGS) technologies have revolutionized the field of medical genetics.
Optical genome mapping (OGM) is an innovative, high-resolution "long read" technique that enables the identification of all classes of chromosomal variation, consisting in the direct visualization of long, labeled DNA molecules throughout the genome. This technology is gradually becoming an essential tool for studying onco-hematology and constitutional genetic pathologies The purpose of this study is to search for structural chromosomal variants (SV) or copy number variants (CNV) not identifiable either by cytogenetic methods nor by "short read" NGS "short read, in individuals with oral-facial clefts with no genetic diagnosis.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with syndromic, familial or complex orofacial clefts | Experimental | Genetic: blood withdrawal |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Individuals with syndromic, complex or familial oral-facial clefts
- With no established genetic diagnosis
- Followed up at the Amiens-Picardie University Hospital
Key exclusion criteria (4 listed)
- genetic diagnosis of oral-facial cleft
- No health insurance affiliation
- Patient under guardianship or curatorship, under safeguard of justice or deprived under public law
- Pregnant, parturient or breast-feeding woman
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 |
|---|---|---|
| blood withdrawalblood withdrawal for genetic testing | Genetic | patients with syndromic, familial or complex orofacial clefts |
Primary outcome
Identification of a structural chromosomal variant
Time frame: 2 years
Identification of a structural chromosomal variant involved in the genesis of orofacial clefts by studying the genetic characteristics of individuals with orofacial clefts.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2026.
- Individual participant dataSharing planned: No
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood withdrawal in people with Orofacial Clefts and Next Generation Sequencing (NGS), run by Centre Hospitalier Universitaire, Amiens at 1 site in France.
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 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: looking for participants now, as of the sponsor's last update on 16 Jan 2026. 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 France. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Bénédicte DEMEER, MD (33+322087581, Demeer.Benedicte@chu-amiens.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of a structural chromosomal variant (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 16 Jan 2026.