CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome
CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Epidemiologi
| Condition(s) | Camptodactyly, Arthropathy, Coxa Vara, Pericarditis |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Epidemiological information is limited to isolated case reports or small patient series, with the largest reported cohort including 35 patients. The genetic cause of CACP syndrome is associated with mutations in the PRG4 gene, located on chromosome 1q31.1. While clinical signs (camptodactyly, non-inflammatory arthropathy, and coxa vara) and radiological findings suggest the diagnosis, genetic testing confirms it by identifying pathogenic biallelic mutations in PRG4. To date, twenty-two m |
| Who can participate | 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. |
| Ages | 18 Years |
| Sex | All |
| Lead sponsor | Meyer Children's Hospital IRCCS |
| Locations | Bari, Italy; Florence, Italy; Genova, Italy; Milan, Italy; Milan, Italy; Padova, Italy (+4 more sites) |
| Start date | 2025-08-01 |
| NCT ID | NCT07468461 |
| Official listing | https://clinicaltrials.gov/study/NCT07468461 |