FMF (familial Mediterranean fever), NLRP3-AID (CAPS = Cryopyrin associated periodic syndromes), MKD (mevalonate kinase deficiency), TRAPS (TNF receptor associated periodic fever syndrome), PFAPA, DIRA (Deficiency of the IL-1 receptor antagonist), DITRA (Deficiency of the IL-36 receptor antagonist), NLRP12-AID (FCAS2 = Familial cold autoinflammatory syndrome 2), Aicardi-Goutières Syndrome (AGS), STING-Associated Vasculopathy with Onset in Infancy (SAVI), Chilblain Lupus, CANDLE (PRAAS) Syndrom, C
Conditions
Interventions
Group 1: Prospective observation of prevalent and incident cases with AID approximately every 6 months for a total of 24 months
- Physician reports
on diagnosis, age at onset of disease at baseline
e
Sponsors
Deutsches Rheuma-Foschungszentrum Berlin
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: - autoinflammatory disease diagnosed by paediatric rheumatologist - written informed consent
Exclusion criteria
Exclusion criteria: - Lack of cognitive maturity to understand the requirements and content of the project - Diagnoses: systemic JIA, CRMO
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Disease activity (physician global assessment on a numerical rating scale of 0-10, NRS) at each visit | — |
Secondary
| Measure | Time frame |
|---|---|
| Disease activity (patient global assessment on a numerical rating scale of 0-10) at each visit Damage (ADDI) at last visit Coping with disease, NRS, at each visit Quality of life (PedsQL 3.0 and 4.0, EQ-5D), at each visit Family burden (FaBel), at each visit Therapy adherence (JAMAR), at each visit Satisfaction with therapy (Likert scale), at each visit | — |
Countries
Austria, Germany
Contacts
Public ContactTatjana Welzel
Deutsches Rheuma-Forschungszentrum Berlin
Outcome results
None listed