Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Apr 3, 2024

Keywords

ClinConnect Summary

This clinical trial is looking at patients with autoinflammatory diseases (AID) and a related condition called AA amyloidosis. Autoinflammatory diseases cause repeated episodes of inflammation in the body, which can lead to serious complications like kidney failure. Researchers want to better understand the genetic factors that contribute to these diseases, especially the unclear genetic results that don’t clearly indicate whether a mutation is causing the symptoms. By studying these genetic variations alongside other biological factors, the goal is to improve diagnosis and treatment for patients.

To participate in this trial, you need to be at least 18 years old and able to give informed consent, or if you're younger, both parents or guardians must agree. You might qualify if you have an unclassified autoinflammatory disease or AA amyloidosis that doctors can’t explain. Participants will be closely monitored and will have the chance to contribute to important research that could help improve understanding and treatment for these conditions. It’s important to note that some patients may not be eligible, such as those who cannot give consent, speak French, or weigh less than 15 kg.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Inclusion criteria for patients to be studied:
• • Patients over 18 years of age with the capacity to give express free and informed consent and;
• • Minor patients under 18 years of age with both parents or legal guardians giving consent;
• • Patients with unclassified IAD or AA amyloidosis of undetermined etiology;
• • Patients followed in one of the study departments;
• • Patients weighing more than 15 kg.
• Inclusion criteria for control patients:
• • Patients over 18 years of age with the capacity to give free and informed express consent;
• • Patients with IAD classified with well-defined international criteria or ;
• • Patients who have undergone cosmetic surgery or blood donors).
• Exclusion Criteria:
• • Patients unable to give express free and informed consent;
• • Subjects under guardianship, curatorship or safeguard of justice;
• • Subjects who do not speak French;
• • Subjects unable to answer questions or express themselves;
• • Patients weighing less than 15 kg;
• • Patients without social security coverage