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| ID | Type | Description | Link |
|---|---|---|---|
| 2021-A00585-36 | Other Identifier | ID-RCB number,ANSM |
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The patients included in this study were followed up in the Internal Medicine and Paediatrics Departments of the Lille CHU, the Paediatric Rheumatology and Immunology Department of the Necker Enfant Malade Hospital in Paris and the Paediatric Rheumatology Department and Internal Medicine of the Bicêtre Hospital in Paris. All patients selected presented one of the 3 CAPS clinical phenotypes (CINCA/NOMID, Muckle-Wells or Cold Urticaria). The mutation and the determination of the variant had to be confirmed by genetic analysis.
Patient data were collected from their medical records, retrospectively. Data collected concern childhood period from appearance of symptoms, adulthood period, in the last year and patients' way of life and quality of life upon the assessment. In addition, we collected demographic data related to the patients' lifestyle (intoxications, living arrangements, level of education) and we conducted individual telephone interviews lasting 15 minutes to complete a quality of life questionnaire including the SF36 questionnaire.
The study aimed to describe the clinical symptoms of patients in adulthood and to assess quality of life. We also wanted to compare the clinical phenotypes of patients according to their genetic variant.
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| Measure | Description | Time Frame |
|---|---|---|
| Clinical characteristics of patients with CAPS in adulthood | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Assessment of the quality of life of patients with CAPS in adulthood | Baseline | |
| Compare the clinical status between childhood and adulthood | Baseline | |
| Compare the clinical status of patients according to their genetic variant. |
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Inclusion Criteria:
Exclusion Criteria:
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Patients follow-up in a CEREMAIA reference or competence center.
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| Name | Affiliation | Role |
|---|---|---|
| Eric Hachulla, MD,PhD | University Hospital, Lille | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hop Claude Huriez Chu Lille | Lille | 59037 | France |
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| ID | Term |
|---|---|
| D056587 | Cryopyrin-Associated Periodic Syndromes |
| ID | Term |
|---|---|
| D056660 | Hereditary Autoinflammatory Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
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| Baseline |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D000094482 | Chronic Inducible Urticaria |
| D000080223 | Chronic Urticaria |
| D014581 | Urticaria |
| D017445 | Skin Diseases, Vascular |
| D000096703 | Cold Urticaria |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |