Adult Outcomes of Children With CAPS

University Hospital, Lille

Status: Completed

Conditions: Cryopyrin Associated Periodic Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT04856540

2021-A00585-36 (Other Identifier)

2021/0105

Details and patient eligibility

About

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.

Enrollment: 54 patients

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Diagnosis of FCAS, Muckle-Wells or NOMID/CINCA;
• age < 16 years at the apparition of the first symptoms of the disease;
• age ≥ 16 years old at inclusion
• follow-up in a CEREMAIA reference or competence center.

Exclusion criteria

• Age < 16 years at inclusion;
• non-consenting patient