Adult Outcomes of Children With CAPS

NCT04856540 | Completed

• 2 other identifiers: 2021/01052021-A00585-36
• Study Type: observational
• Target: 54
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (1)

• Clinical characteristics of patients with CAPS in adulthood

  Baseline

Secondary Outcomes (3)

• 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

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients follow-up in a CEREMAIA reference or competence center.

You may qualify if:

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

You may not qualify if:

• non-consenting patient

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

Hop Claude Huriez Chu Lille

Lille, 59037, France

Location

MeSH Terms

Conditions

Cryopyrin-Associated Periodic Syndromes

Condition Hierarchy (Ancestors)

Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases; Chronic Inducible Urticaria; Chronic Urticaria; Urticaria; Skin Diseases, Vascular; Cold Urticaria; Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Eric Hachulla, MD,PhD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2021
• First Posted: April 23, 2021
• Study Start: September 16, 2021
• Primary Completion: February 25, 2022
• Study Completion: February 25, 2022
• Last Updated: January 18, 2023

Record last verified: 2023-01

Locations

FR (1)