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
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.
- 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