Camptodactyly–Arthropathy–Coxa Vara–Pericarditis (CACP) syndrome patient registry and genetic review
Official title: Profiling Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome: A Multicenter European Study
Run by Meyer Children's Hospital IRCCS · NCT07468461 · Data updated 2026-11-12
This registry collects clinical and genetic information to better understand CACP syndrome in children with confirmed PRG4 mutations.
Quick facts
| Study type | Observational |
|---|---|
| Ages | Any age to 18 Years |
| Sex | All |
| Enrollment | 15 (estimated) |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 10 sites (Bari and 9 other locations) |
| Status | Recruiting |
| Started | August 1, 2025 |
| Main results expected | January 1, 2029 |
| Study ends | January 1, 2038 |
| Registry record updated | March 16, 2026 |
| Trial ID | NCT07468461 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
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Rheumatology Unit, Meyer Children's Hospital
Florence, Italy Recruiting -
IRCCS Istituto Giannina Gaslini,
Genova, Italy Recruiting -
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy Recruiting -
Ospedale Pediatrico Giovanni XXIII
Bari, Italy Not yet recruiting -
ASST Fatebenefratelli
Milan, Italy Not yet recruiting -
Azienda Ospedaliera di Padova
Padova, Italy Not yet recruiting
Show 4 more locations
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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
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.