Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: AA Amyloidosis, Autoinflammatory Disease. Basic parameters: 3 years — 80 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Overview
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.
Detailed description
The study aim to explore variants of undetermined significance in major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.
National multicenter research: internal medicine department of Tenon Hospital, pediatric department of Versailles Hospital and pediatric dermatology department of Necker Enfants Malades Hospital in Paris
Samples will be collected at the inclusion visit or at subsequent visits of the patient to the department during a blood draw performed as part of routine care by a registered nurse.
The total volume of the sample will be 24 mL per 6 month period maximum, and will not exceed In case of skin involvement of the auto-inflammatory disease, a skin biopsy may be performed as part of the patient's follow-up care.
Primary outcome measures
- Exploration of VUS in AutoInflammatory Diseases [Time frame: Up to 4 years]
Secondary outcome measures (3)
- Pathophysiology of Autoinflammatory Diseases [Time frame: Up to 4 years]
- Role of other innate immune cells in AutoInflammatory Diseases [Time frame: Up to 4 years]
- Improve knowledge of AA amyloidosis [Time frame: Up to 4 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
France · 1 center
- Service médecine interne-Hôpital Tenon — Paris
Identifiers
NCT: NCT06354322 · APHP230630