Идёт набор NCT07422454

FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects

— Наблюдательное Craniofacial Abnormalities

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: Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально: Состояния в реестре: Craniofacial Abnormalities. 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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Официальное название

FACE.S-4-KIDS : FACE and SKULL for Key Innovative Data Science. Une Base de données de phénotypage Profond Des Anomalies Craniofaciales au Cours du développement

Обзор

FACE.S-4-KIDS is an ambitious database project addressing the scientific question of the variable expression of craniofacial disorders in humans, to reach a sound clinical management (diagnosis, prognosis), and the establishment of personalised treatment plans.

Подробное описание

FACE.S-4-KIDS takes advantage of large cohorts of well-characterized and genotyped craniofacial anomaly patients, clinical departments (medical, surgical and imaging) with dysmorphology experts, and leading basic science laboratories, all located on a single site, and generating vast amounts of data - patient records, imaging, photographs, genomics, models - but lacking a unifying structure allowing multimodal assessments.

Первичные конечные точки

Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development [Срок оценки: 19 years]

Вторичные конечные точки (4)

Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time [Срок оценки: 19 years]
High-resolution craniofacial phenotyping parameters and their association with disease severity scores [Срок оценки: 19 years]
Investigation of the origins of phenotypic variability linked to perturbations in a limited group of signaling pathways [Срок оценки: 19 years]
Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies [Срок оценки: 19 years]

Критерии участия

Inclusion Criteria for patients:

Patients suffering from one of the following pathologies:

craniostenosis linked to FGFR signaling, achondroplasia / hypochondroplasia, osteogenesis imperfecta, Pierre Robin sequence (with or without anatomical markers).

Patients who may or may not have benefited from genome sequencing as part of their care and who (or holders of parental authority where applicable) have consented to the conservation of the remains of their biological samples in one of these collections:

Chondroplasia and craniostenosis,
Constitutional Bone Diseases,
Developmental anomalies.
Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.

Inclusion Criteria for controls:

Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, with none of these pathologies:

FGFR-related craniosynostoses Chondroplasia / hypochondroplasia Osteogenesis imperfecta Pierre Robin sequence (with or without anatomical marker)

Patients who have benefited from genome sequencing as part of their care and who have (or holders of parental authority where applicable) consented to the conservation of the remains of their biological samples in the "Infectious Diseases" collection .
Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment.

Non-inclusion Criteria:

Opposition of the patient or his parents to the reuse of their data from care in this study

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет