DysmorphiaAIDY2NCT06219421
Automatic Phenotyping of Patients on 2D Photography
An observational study of Dysmorphia and Orphan Diseases, run by Imagine Institute at 1 site in France.
Trial summary
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs. It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- What is being tested?
- Clinical data reuse
- How many people
- 22,000 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jan 2025to 1 Mar 2028
- Phase
- Observational
- 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
Study population: Recruitment will be carried out either: In Necker in the services of: * Medical genetics * Maxillofacial surgery / plastic surgery * Neurosurgery (functional craniofacial surgery unit) Outside Necker: * In other national university hospitals: Lille (maxillofacial surgery department), Nantes (maxillofacial surgery department), Montpellier (clinical genetics department) * In other international university hospitals: London (GOSH, London, Professor Dunaway) and Bangkok (genetics department, Professor Porntaveetus) * In a private orthodontic practice
The patient inclusion criteria are:
- Patients followed in medical genetics,
- Patients undergoing maxillofacial surgery, or craniofacial surgery as part of the management of a pathology, of genetic origin or not, associated with dysmorphism of the head and neck,
- Patients for whom frontal and profile facial photographs are taken as part of their treatment.
The inclusion criteria for control subjects are:
- Patients followed in maxillofacial surgery, for a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).
- Patients for whom frontal and profile facial photographs are taken as part of their treatment.
The criteria for non-inclusion of patients are:
- Patients who have undergone facial or skull surgery before the first photo was taken.
- Person subject to a judicial safeguard measure.
- People objecting to the reuse of their health data.
The criteria for non-inclusion of control subjects are:
- Pathologies affecting facial symmetry (dental cellulitis, displaced fractures).
- Patient followed for dysmorphic syndrome or in whom dysmorphic syndrome has been suspected.
- Person subject to a judicial safeguard measure.
- People objecting to the reuse of their health data.
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
Necker - Hôpital des Enfants Malades
Paris
About this study
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays
- Conditions
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- Being tested
- Clinical data reuse
- Keywords
- artificial intelligence
- Medical subject headings
- Congenital Abnormalities, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Clinical data reuseOther
Clinical data reuse
| Study group | Role | What they receive |
|---|---|---|
| Patients | Not described Receives: Other: Clinical data reuse | |
| Controls | Not described Receives: Other: Clinical data reuse |
What is being measured
The primary outcome is the main question the study is designed to answer.
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Measured: through study completion, an average of 1 year
Secondary outcomes (3)
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Measured: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on ethnicity
Study the facial characteristics of a syndrome depending on ethnicity
Measured: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on age
Study the facial characteristics of a syndrome depending on age
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Jan 2024
- Study start1 Jan 2025
- Primary completion1 Mar 2028 (estimated)
- Study completion1 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DysmorphiaStudies 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
- Retrospective
- Enrolment
- 22,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06219421
- Sponsor's protocol ID
- AIDY 2
- Acronym
- AIDY2
- Status last verified
- Jan 2026
- First submitted
- 28 Dec 2023
- Last updated
- 12 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- 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 12 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Automatic Phenotyping of Patients on 2D Photography
- ClinicalTrials.gov ID
- NCT06219421
- Acronym / sponsor ID
- AIDY2 / AIDY 2
- Conditions
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- Keywords
- artificial intelligence
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 22,000 participants (estimated)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 1 Jan 2025 (actual)
- Primary completion
- 1 Mar 2028 (estimated)
- Study completion
- 1 Mar 2028 (estimated)
- First posted
- 23 Jan 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.
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Other: Clinical data reuse |
| Controls | – | Other: Clinical data reuse |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Recruitment will be carried out either: In Necker in the services of: * Medical genetics * Maxillofacial surgery / plastic surgery * Neurosurgery (functional craniofacial surgery unit) Outside Necker: * In other national university hospitals: Lille (maxillofacial surgery department), Nantes (maxillofacial surgery department), Montpellier (clinical genetics department) * In other international university hospitals: London (GOSH, London, Professor Dunaway) and Bangkok (genetics department, Professor Porntaveetus) * In a private orthodontic practice
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 |
|---|---|---|
| Clinical data reuseClinical data reuse | Other | Controls, Patients |
Primary outcome
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Time frame: through study completion, an average of 1 year
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
3 secondary outcomes
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Time frame: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on ethnicity
Time frame: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on age
Time frame: through study completion, an average of 1 year
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 12 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?
An observational study of Dysmorphia and Orphan Diseases, run by Imagine Institute at 1 site in France.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 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 Yasmine Ainouz, MD (+33 1 42 75 45 65, yasmine.ainouz@institutimagine.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis. (time frame: through study completion, an average of 1 year). 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 12 Jan 2026.