Studies gene changes in people with autoinflammatory diseases and AA amyloidosis
Studies unclear gene variants in people with autoinflammatory diseases or AA amyloidosis.
Plain-language title generated from the registry record
Registry title: Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Key facts
- Where
- Paris, FranceSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 3 and 80 years old?
Source: NCT06354322, who can take part
Where in France
- Service médecine interne-Hôpital TenonParis, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Assistance Publique - Hôpitaux de Paris
- Trial code
- NCT06354322
- Record updated
- 2 September 2025
- Original description
Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.Read full original descriptionShow less
Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.
However, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms.
genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found.
Inclusion: 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; 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: 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.