U.S., March 13 -- ClinicalTrials.gov registry received information related to the study (NCT07468461) titled 'CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome' on Feb. 17.
Brief 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 ...