Diagnosis, Determining Factors, and Characteristics of Pathologies Associated With Autoinflammatory Diseases. (DICAP)
Autoinflammatory diseases are part of a heterogeneous group of diseases that manifest themselves through an inflammatory reaction in their initial phase (innate immunity) that is activated inappropriately: either because the reaction is too strong or because it is unjustified (for example, in the absence of infection).
In many cases, and in their initial description, autoinflammatory diseases have a genetic origin (and are therefore hereditary or familial) and preferentially affect children or young adults. However, a significant number of other diseases have expanded this nosological field due to the preponderance of autoinflammation in explaining the symptoms. Sometimes, autoinflammatory disease can also remain "unclassified." In general, autoinflammatory diseases manifest as recurrent attacks combining fever, skin rashes, and joint pain. Certain signs are more specific to certain diseases, such as hives, abdominal pain, mouth ulcers, or swollen lymph nodes in the neck. It is mainly the recurrence of attacks and their unprovoked nature that attract the attention of the patient and the doctor. These attacks are systematically associated with an increase in inflammatory markers in the blood.
Currently, most autoinflammatory diseases are diagnosed based on a combination of clinical and biological evidence, following a thorough investigation by specialists in these diseases. Biological markers that can confirm the disease are rare. However, for some of them, confirmation can be obtained through genetic analysis. In certain cases, extensive genetic analysis may be offered.
Autoinflammatory diseases are managed by specialists (internists, rheumatologists, etc.) in close collaboration with primary care physicians and other healthcare professionals (nurses, physical therapists, social workers, etc.).
Treatment is sometimes based on exceptional drugs that can only be prescribed and dispensed in hospitals.
This multicenter, national study, which targets children and adults with rare autoinflammatory diseases, aims to identify:
- the "key" parameters for a faster diagnosis,
- the determining factors and their associated characteristics, and
- the treatments used and their effectiveness.
Aperçu de l'étude
Statut
Les conditions
Type d'étude
Inscription (Estimé)
Contacts et emplacements
Lieux d'étude
-
-
-
Lyon, France, 69004
- Recrutement
- Hôpital de la Croix-Rousse - Service de médecine interne - 103 Grande Rue de la Croix-Rousse
-
Contact:
- Yvan Jamilloux, MD
- Numéro de téléphone: +33 4 26 73 26 36
- E-mail: yvan.jamilloux@chu-lyon.fr
-
-
Critères de participation
Critère d'éligibilité
Âges éligibles pour étudier
- Enfant
- Adulte
- Adulte plus âgé
Accepte les volontaires sains
Méthode d'échantillonnage
Population étudiée
Enrolment may be extended to a maximum of 50 patients with rare autoinflammatory diseases followed up in the medical departments of the centers participating in the study.
- minor patients, as 70% of rare autoinflammatory diseases are expressed and diagnosed in childhood (Familial Mediterranean Fever (FMF), Periodic Fever-Aphthous Stomatitis-Pharyngitis-Adenopathy Syndrome (PFAPA), Cryopyrin-Associated Periodic Syndrome (CAPS), Mevalonate Kinase Deficiency (MVK)).
- adult patients, as certain rare autoinflammatory diseases are discovered in adulthood (FMF depending on variant, tumor necrosis factor receptor 1-related relapsing fever syndrome (TRAPS)) or are revealed in adulthood (adult STILL disease, Behçet syndrome, Schnitzler syndrome, VEXAS syndrome (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic))
La description
Inclusion Criteria:
- Adult patient > 18 years old Minor patient (aged 4 years and 6 months to 18 years) Patient diagnosed with a rare autoinflammatory disease Patient treated at the Hospices Civils de Lyon in the department participating in the research Patient affiliated with social security
Exclusion Criteria:
- none
Plan d'étude
Comment l'étude est-elle conçue ?
Détails de conception
Cohortes et interventions
Groupe / Cohorte |
|---|
|
Patients with rare autoinflammatory diseases
Adult patient > 18 years old Minor patient (aged 4 years and 6 months to 18 years) Patient diagnosed with a rare autoinflammatory disease Patient treated at the Hospices Civils de Lyon in the department participating in the research Patient affiliated with social security
|
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Identification of etiologies related to rare autoinflammatory diseases
Délai: 6 months after the end of the studies
|
Comparison of the etiologies
|
6 months after the end of the studies
|
Collaborateurs et enquêteurs
Parrainer
Dates d'enregistrement des études
Dates principales de l'étude
Début de l'étude (Réel)
Achèvement primaire (Estimé)
Achèvement de l'étude (Estimé)
Dates d'inscription aux études
Première soumission
Première soumission répondant aux critères de contrôle qualité
Première publication (Réel)
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
Dernière mise à jour soumise répondant aux critères de contrôle qualité
Dernière vérification
Plus d'information
Termes liés à cette étude
Mots clés
Autres numéros d'identification d'étude
- 25-5071
Informations sur les médicaments et les dispositifs, documents d'étude
Étudie un produit pharmaceutique réglementé par la FDA américaine
Étudie un produit d'appareil réglementé par la FDA américaine
Ces informations ont été extraites directement du site Web clinicaltrials.gov sans aucune modification. Si vous avez des demandes de modification, de suppression ou de mise à jour des détails de votre étude, veuillez contacter register@clinicaltrials.gov. Dès qu'un changement est mis en œuvre sur clinicaltrials.gov, il sera également mis à jour automatiquement sur notre site Web .