Adult Outcomes of Children With CAPS

Clinical Characteristic and Quality of Life Assessment in Adulthood of Patients With Cryopyrin Associated Periodic Syndrome

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04856540

Acronym

CAPS

Enrollment

Registered

2021-04-23

Start date

2021-09-16

Completion date

2022-02-25

Last updated

2023-01-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cryopyrin Associated Periodic Syndrome

Keywords

CAPS Cryopyrin associated periodic syndromes, MWS Muckle-Wells syndrome, CINCA Chronic infantile neurological cutaneous and articular syndrome ;, FCAS Familial cold auto-inflammatory syndrome, Phenotype ; Quality of life, Quality of life

Brief summary

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

16 Years to No maximum

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

Design outcomes

Primary

Measure	Time frame
Clinical characteristics of patients with CAPS in adulthood	Baseline

Secondary

Measure	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.	Baseline

Countries

France

Outcome results