Automatic Phenotyping of Patients on 2D Photography
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: Clinical data reuse.
- Кому может быть актуально
- Состояния в реестре: Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales. Базовые параметры: Без ограничений · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Франция
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
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
Вмешательства
- Другое Clinical data reuse
Clinical data reuse
Первичные конечные точки
- Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis. [Срок оценки: through study completion, an average of 1 year]
Вторичные конечные точки (3)
- Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant [Срок оценки: through study completion, an average of 1 year]
- Study the facial characteristics of a syndrome depending on ethnicity [Срок оценки: through study completion, an average of 1 year]
- Study the facial characteristics of a syndrome depending on age [Срок оценки: through study completion, an average of 1 year]
Критерии участия
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.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Франция · 1 центр
- Necker - Hôpital des Enfants Malades — Paris
Идентификаторы
NCT: NCT06219421 · AIDY 2