European Study of CACP Syndrome in Children and Adolescents Characterizing Symptoms, Genetics, and Treatment Outcomes

What this Trial Is About

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis CACP syndrome is a rare inherited disorder caused by mutations in the PRG4 gene. It is characterized by the combination of camptodactyly bent fingers or toes, joint problems without inflammation, and deformity of the hip bone, sometimes also involving heart and lung issues. The syndrome shows variable symptoms and may be underdiagnosed due to its rarity and resemblance to juvenile arthritis. This European multicenter study aims to collect detailed clinical, genetic, and therapeutic data to better understand the diseases characteristics and progression in children diagnosed with CACP syndrome. Participants are children diagnosed with CACP syndrome confirmed by genetic testing who were diagnosed between 2005 and early 2026. The study involves regular clinical visits approximately every six months to monitor symptoms, joint function, and possible complications like pericarditis. Imaging and lab tests are done every 1 to 2 years or as needed. No specific drug treatment is available, and the study focuses on observing the disease course, treatment approaches, and genotype-phenotype relationships over a 10-year period. Throughout the study, researchers will collect epidemiological and clinical information, including disease incidence, geographic and ethnic distribution, symptom progression, and treatment outcomes. Patient disability, pain levels, and well-being will be tracked using questionnaires. The study will also document any misdiagnoses before confirmation of CACP. Monitoring adverse events related to treatments used will be included. This long-term observation will help improve understanding and management of CACP syndrome in affected children.

CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome