DysmorphologyAIDYNCT06225141
Characterization and Recognition of Genetic Diseases by Photography
An observational study of Dysmorphology and Orphan Diseases, run by Imagine Institute at 1 site in France.
Trial summary
There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients. Nearly 80% of these diseases have a genetic origin and 30 to 40% of them are associated with dysmorphia. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Dysmorphology, Orphan Diseases
- What is being tested?
- Clinical Data reuse
- How many people
- 935 participants
- Where
- 1 siteFrance
- Study dates
- 2 Jan 2022to 2 Jan 2024
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Recruitment will be carried out in the departments of medical genetics, maxillofacial surgery and plastic surgery and neurosurgery (functional craniofacial surgery unit) of the Necker Enfants Malades Hospital.
The patient inclusion criteria are:
- Patients having a medical genetics, maxillofacial surgery, or craniofacial surgery consultation as part of the management of a rare disease (in France, disease affecting less than 30,000 people) associated with dysmorphia at the level of the head or neck (area from the vertex to the clavicles): hypotelorism, hypertelorism, exophthalmos, brachycephaly, anterior plagiocephaly, micrognathia, microretrognathia, prognathia, low ear, oblique eyelid fissures above, oblique eyelid fissures below, narrow eyelid fissures , small mouth, anteverted nostrils, short nose, broad nose tip, broad nose bridge, prominent nose bridge.
- Patients with a confirmed diagnosis of one of the following pathologies: Noonan, 22q11.2 deletion, Crouzon, Kabuki, Pitt Hopkins, Mowat Wilson, Cornelia de Lange, Treacher-Collins, Goldenhar or by Silver-Russel
- Patients for whom photographs of the face and/or hands are taken as part of their treatment
The inclusion criteria for control subjects are:
- Patients having a maxillofacial surgery consultation, as part of the management of a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).
- Patients for whom photographs of the face and/or hands 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.
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.
Trial locations and contacts
1 site in 1 country.
About this study
There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients. Nearly 80% of these diseases have a genetic origin and 30 to 40% of them are associated with dysmorphia. The latter can be suspected by evaluating the morphological characteristics of the patient. This medical skill, called dysmorphology, which allows a diagnosis to be made by evaluating the morphological characteristics of a patient, is based on experience. Diagnosis is often easy for relatively common diseases, but more difficult for rarer pathologies affecting few patients and often described in a single ethnicity and age of life.
The study aims to create a dataset specific to the application of methods from artificial intelligence. Extending the methodologies described to profile and extremity photographs will allow better recognition and description of dysmorphia.
Read more
This will allow to make diagnostic suggestions by comparison with the database. The Data Science team has already explored the notion of phenotypic similarity of patients.
Jean Feydy is a mathematician expert in image analysis and will ensure the scientific robustness of the study methods.
This project will conclude with the establishment of a diagnostic aid tool, integrating research results for doctors with a particular interest in developmental anomalies and intellectual disability.
- Conditions
- Dysmorphology, Orphan Diseases
- Being tested
- Clinical Data reuse
- Keywords
- artificial intelligence
- Medical subject headings
- 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.
Relationship between phenotypic characteristics and genotype in rare pathologies associated with dysmorphia
Relationship between phenotypic characteristics (based on photographs landmarks) of the face and hand from rare pathologies associated with dysmorphia and genotype.
Measured: through study completion, an average of 1 year
Secondary outcomes (2)
Creation of a database of landmark photographs taken as part of care and including all patients seen in consultation
Creation of a database of landmark photographs taken as part of care and including all patients seen in consultation
Measured: through study completion, an average of 1 year
Training an algorithm using collected data for diagnostic purposes
Training an algorithm using collected data to develop a dysmorphological diagnosis aid tool which could be particularly useful in situations of uncommon diseases where the clinician has not yet acquired the necessary expertise to make a diagnosis.
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 posted25 Jan 2024
- Study start2 Jan 2022
- Primary completion2 Jan 2024
- Study completion2 Jan 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DysmorphologyStudies 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
- 935 participants (actual)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06225141
- Sponsor's protocol ID
- AIDY
- Acronym
- AIDY
- Status last verified
- Jan 2024
- First submitted
- 28 Dec 2023
- Last updated
- 25 Jan 2024
- 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 25 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization and Recognition of Genetic Diseases by Photography
- ClinicalTrials.gov ID
- NCT06225141
- Acronym / sponsor ID
- AIDY / AIDY
- Conditions
- Dysmorphology, Orphan Diseases
- Keywords
- artificial intelligence
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 935 participants (actual)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 2 Jan 2022 (actual)
- Primary completion
- 2 Jan 2024 (actual)
- Study completion
- 2 Jan 2024 (actual)
- First posted
- 25 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.
There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients. Nearly 80% of these diseases have a genetic origin and 30 to 40% of them are associated with dysmorphia. The latter can be suspected by evaluating the morphological characteristics of the patient. This medical skill, called dysmorphology, which allows a diagnosis to be made by evaluating the morphological characteristics of a patient, is based on experience. Diagnosis is often easy for relatively common diseases, but more difficult for rarer pathologies affecting few patients and often described in a single ethnicity and age of life.
The study aims to create a dataset specific to the application of methods from artificial intelligence. Extending the methodologies described to profile and extremity photographs will allow better recognition and description of dysmorphia.
This will allow to make diagnostic suggestions by comparison with the database. The Data Science team has already explored the notion of phenotypic similarity of patients.
Jean Feydy is a mathematician expert in image analysis and will ensure the scientific robustness of the study methods.
This project will conclude with the establishment of a diagnostic aid tool, integrating research results for doctors with a particular interest in developmental anomalies and intellectual disability.
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 in the departments of medical genetics, maxillofacial surgery and plastic surgery and neurosurgery (functional craniofacial surgery unit) of the Necker Enfants Malades Hospital.
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
Relationship between phenotypic characteristics and genotype in rare pathologies associated with dysmorphia
Time frame: through study completion, an average of 1 year
Relationship between phenotypic characteristics (based on photographs landmarks) of the face and hand from rare pathologies associated with dysmorphia and genotype.
2 secondary outcomes
Creation of a database of landmark photographs taken as part of care and including all patients seen in consultation
Time frame: through study completion, an average of 1 year
Training an algorithm using collected data for diagnostic purposes
Time frame: through study completion, an average of 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 25 Jan 2024.
- 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. 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?
An observational study of Dysmorphology 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: finished, as of the sponsor's last update on 25 Jan 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 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?
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?
Relationship between phenotypic characteristics and genotype in rare pathologies associated with dysmorphia (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 25 Jan 2024.