Unclassified genetic variants in autoinflammatory disease and AA amyloidosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter observational project enrolls adults and children with unclassified autoinflammatory disease or AA amyloidosis of unknown cause and compares them with control patients who have well-defined autoinflammatory diagnoses or are healthy donors. Genetic variants of unknown significance (VUS) will be studied with pathophysiological and functional analyses to determine whether they are disease-causing. Samples—mainly blood (up to 24 mL per six-month period) and occasionally skin biopsies when clinically indicated—will be collected during routine clinic visits. The research is coordinated across internal medicine and pediatric departments at AP-HP hospitals in Paris.

Why it matters

Who can join: the full rules

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

Where it's running

• Service médecine interne-Hôpital Tenon
  Paris, France Recruiting

Study contacts

• Study coordinator: Sophie GEORGIN-LAVIALLE, Professor
• Email: sophie.georgin-lavialle@aphp.fr
• Phone: 00 33 1 56 01 72 04

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.