Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age3-80
SponsorAssistance Publique - Hôpitaux de Paris
About this trial
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.
Eligibility criteria
Qualifiers
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;
Disqualifiers
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;
Trial design
Treatments tested in this trial
- Not listed
Trial groups
200 Participants
are grouped into 2 trial groupsSponsors and collaborators
Source ClinicalTrials.gov