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
This trial does not accept healthy volunteersQualifiers
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 population
Major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
200 Participants
are grouped into 2 trial groupsGroup A: patients to be studied
Group B: Control patients
Trial outcomes
Primary outcomes
1
Exploration of VUS in AutoInflammatory Diseases
To explore variants of undetermined significance (VUS)in patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.
Time frame
Up to 4 yearsSecondary outcomes
1
Pathophysiology of Autoinflammatory Diseases
To improve the knowledge on the pathophysiology of Autoinflammatory Diseases: to determine the role of new inflammation pathways in AutoInflammatory Diseases
Time frame
Up to 4 years2
Role of other innate immune cells in AutoInflammatory Diseases
Evaluate the role of other innate immune cells (neutrophils, mast cells...) and their mediators
Time frame
Up to 4 years3
Improve knowledge of AA amyloidosis
Improve knowledge of AA amyloidosis, a complication of autoinflammatory diseases
Time frame
Up to 4 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov