Camptodactyly–Arthropathy–Coxa Vara–Pericarditis (CACP) syndrome patient registry and genetic review
Profiling Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome: A Multicenter European Study
This registry collects clinical and genetic information to better understand CACP syndrome in children with confirmed PRG4 mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 15 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 10 sites (Bari and 9 other locations) |
| Trial ID | NCT07468461 on ClinicalTrials.gov |
What this trial studies
This observational, multicenter project compiles clinical, radiological, and genetic data from pediatric patients diagnosed with CACP syndrome between January 1, 2005 and January 1, 2026. Enrollment is limited to children with clinical features and genetically confirmed biallelic PRG4 mutations, with parental or guardian consent. Data are drawn from participating Italian pediatric centers and medical records to characterize phenotype, mutation spectrum, and disease course. The effort aims to fill gaps left by prior small case series and improve epidemiological and genotype–phenotype understanding.
Who should consider this trial
Good fit: Children diagnosed before age 18 with clinical features and genetic confirmation of biallelic PRG4 mutations between January 1, 2005 and January 1, 2026 whose parents or guardians provide informed consent are ideal candidates.
Not a fit: Adults, patients without genetic confirmation of PRG4 mutations, those diagnosed outside the 2005–2026 time window, or those without parental/guardian consent are unlikely to benefit from participation.
Why it matters
Potential benefit: If successful, the registry could enable earlier diagnosis, clearer genotype–phenotype correlations, and more informed clinical management for affected children.
How similar studies have performed: Prior literature consists mainly of case reports and small cohorts (the largest published cohort ≈35 patients) that described clinical features and PRG4 mutations, so this registry builds on modest existing data rather than testing a new therapy.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients with clinical diagnosis and genetic confirmation of CACP syndrome. * Patients diagnosed during pediatric age (\<18 years). * Time frame: Patients diagnosed with CACP between January 2005 and January 1, 2026. * Informed consent obtained from parents or legal guardians. Exclusion Criteria: * Patients without genetic confirmation of the diagnosis. * Lack of informed consent from parents or legal guardians. * Patients diagnosed before January 1, 2005, or after January 1, 2026.
Where this trial is running
Bari and 9 other locations
- Ospedale Pediatrico Giovanni XXIII — Bari, Italy (Not_yet_recruiting)
- Rheumatology Unit, Meyer Children's Hospital — Florence, Italy (Recruiting)
- IRCCS Istituto Giannina Gaslini, — Genova, Italy (Recruiting)
- ASST Fatebenefratelli — Milan, Italy (Not_yet_recruiting)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan, Italy (Recruiting)
- Azienda Ospedaliera di Padova — Padova, Italy (Not_yet_recruiting)
- Santa Maria Goretti Hospital — Roma, Italy (Not_yet_recruiting)
- Centro di Reumatologia Pediatrica — Udine, Italy (Not_yet_recruiting)
- Hiospedal Sant Joan de Déu — Barcelona, Spain (Not_yet_recruiting)
- Ankara Pediatrik Romatoloji Bilim Dalý Hacettepe Üniversitesi — Ankara, Turkey (Türkiye) (Not_yet_recruiting)
Study contacts
- Study coordinator: Teresa Giani, MD, PhD
- Email: teresa.giani@gmail.com
- Phone: +39 0555662924
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.