Unclassified genetic variants in autoinflammatory disease and AA amyloidosis

Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

This project tries to see if unclear genetic changes found in people with autoinflammatory diseases or AA amyloidosis cause their symptoms by studying blood and sometimes skin samples.

Quick facts

• Study type: Observational
• Enrollment: 200 (estimated)
• Ages: 3 Years to 80 Years
• Sex: All
• Sponsor: Assistance Publique - Hôpitaux de Paris (Academic / other)
• Locations: 1 site (Paris)
• Trial ID: NCT06354322 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates are patients (including minors with parental or guardian consent) followed at the participating Paris hospitals who have unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology and weigh more than 15 kg.

Not a fit: Patients with clearly classified autoinflammatory diseases, those unable to give informed consent, non-French speakers, or patients under 15 kg are unlikely to receive direct benefit from participation.

Why it matters

Potential benefit: If successful, this work could clarify whether specific genetic variants cause disease, enabling more accurate diagnoses and more appropriate monitoring or treatment to help prevent complications such as kidney failure.

How similar studies have performed: Similar approaches combining genetic sequencing with functional and pathophysiological studies have led to the discovery of new autoinflammatory disorders and clarified the significance of some variants, although many variants remain unclassified.

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

Where this trial is running

Paris

• Service médecine interne-Hôpital Tenon — Paris, France (Recruiting)

Study contacts

• Study coordinator: Sophie GEORGIN-LAVIALLE, Professor

Conditions AA Amyloidosis; Autoinflammatory Disease; Autoinflammatory disease; AA amylosis; Functional explorations; Unclassified genotypes