RecruitingOBSERVATIONAL

Automatic Phenotyping of Patients on 2D Photography

This study is investigating how artificial intelligence (AI) can help doctors diagnose rare diseases that affect how a person's face looks. Many rare conditions can cause subtle changes in facial features which can be hard to spot, even for experienced specialists, leading to delays in getting a diagnosis. Researchers will use AI to analyse existing photographs of patients' faces, along with their medical records, to see if the AI can learn to recognise these subtle facial signs. The goal is to develop a tool that could make it easier and faster for doctors to identify these conditions in the future. This project uses photos already taken as part of patient care, not new ones.

At a glance

Status

Recruiting

Sponsor

Imagine Institute

Enrolment target

22,000

Start

01 Jan 2025

Estimated completion

01 Mar 2028

Dysmorphia Orphan Diseases Dysmorphies Craniofaciales

What is this study about?

This research project is looking into a new way to help doctors diagnose certain rare health conditions. You might not know that many rare diseases, especially those that affect children and babies, can cause very small changes in how a person's face develops. These changes can be so tiny that they are very hard to see, even for doctors who specialise in these conditions.

Because these conditions are rare and the signs can be so subtle, it often takes a long time for people to get a proper diagnosis. This study is exploring how 'artificial intelligence' (AI) – which is like very smart computer software – can be trained to look at photographs of people's faces. The AI will learn to spot these subtle facial differences that could be linked to rare conditions. Researchers will be using facial photos that have already been taken as part of routine medical care.

The main aim is to develop a tool that could eventually help doctors in the future to more quickly identify these rare conditions. This could mean faster diagnoses for patients, leading to earlier support and treatment. It's important to remember that this study uses existing information and photos; no new pictures will be taken for this research project.

Key takeaways

Uses AI to study existing facial photos for rare disease diagnosis.
Aims to speed up diagnosis for rare conditions with subtle facial changes.
Only uses previously collected medical data and photographs.
No new appointments, tests, or procedures for patients.
All personal identifying information is removed to protect privacy.

Who may be eligible?

To be considered for this study, you would be a patient who has visited a medical genetics specialist, or someone who has had surgery on their face or head (craniofacial surgery) for a condition that might or might not be genetic and affects how your head and neck look.

Also, a key part of joining is that you must have had photos of your face taken from the front and the side as part of your regular medical treatment. These are the photos the study will use. They are not taking new pictures for the research itself.

Some people cannot be included. This includes anyone who had surgery on their face or head before their first photo was taken. Also, if you've formally said you don't want your health information used for research, or if you're under a legal protection order, you wouldn't be able to take part. They also won't include people with certain conditions that affect facial symmetry, like a severe tooth infection or a broken bone in the face, unless it's for a rare dysmorphic syndrome.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Have you been seen by a medical genetics specialist?
Have you had surgery on your face or head for a condition affecting your appearance?
Were photos of your face (front and side) taken as part of your care?
Have you *not* previously objected to your health data being used for research?

Answer every question to see your result.

What does participation involve?

If you are eligible for this study, you wouldn't need to do anything extra. This study only uses information and photographs that have already been collected as part of your previous medical care. You would not need to attend any extra appointments, take any new medications, or have any follow-up checks specifically for this research. The researchers would simply access your existing de-identified medical records and photographs.

Potential risks and benefits

There are no direct benefits to you from taking part in this study, as it uses your past medical information without any direct interaction with you. However, the information learned could help future patients with rare diseases get diagnoses more quickly. Since no new procedures or appointments are involved, there are no physical risks. The main risk would be privacy, but all your personal details are removed from your data before researchers see it to protect your identity. You always have the right to withdraw your consent for your data to be used at any time.

Locations (1)

Necker - Hôpital des Enfants Malades
Verified postcode
Paris, France· Recruiting

Common questions

What is 'Artificial Intelligence' doing in this study?

Artificial Intelligence (AI) is like smart computer software that will look at existing photos of faces to learn to spot very subtle features linked to rare conditions.

Do I need to have new photos taken for this study?

No, you do not. This study only uses photos and medical information that have already been collected during your past medical appointments.

Will my information be kept private?

Yes, all your personal details that could identify you are removed from your photos and medical records before the researchers analyse them. This helps keep your information private.

Could this study help me directly?

This study uses past information, so it won't directly change your current care. However, the findings could help doctors diagnose others with similar conditions more quickly in the future.

What if I change my mind about my data being used?

You have the right to withdraw your permission for your health data to be used in this study at any time. Simply let your care team know.

How to find out more

Yasmine Ainouz, MD

yasmine.ainouz@institutimagine.org +33 1 42 75 45 65 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.