Clinical Research Directory

Treatment of Camptodactyly With Radial Longitudinal Flap Versus Full-Thickness Skin Graft

The goal of this randomized clinical trial is to compare two surgical techniques used for skin coverage after surgical correction of camptodactyly, a condition in which one or more fingers remain bent and cannot be fully straightened. The study will include children and adolescents with camptodactyly who have a proximal interphalangeal joint flexion contracture of 30 degrees or more and an indication for surgical treatment. The main question the study aims to answer is: \- Does a radial longitudinal flap provide better gain and maintenance of finger extension six months after surgery compared with a full-thickness skin graft? The study will also evaluate: * Movement of the affected finger; * Recurrence of the deformity; * Surgical complications; * Hand function; * Patient and/or parent or caregiver satisfaction; * Adherence to rehabilitation and nighttime splint use; * Overall surgical outcome. Researchers will compare radial longitudinal flap and full-thickness skin graft to determine whether the radial longitudinal flap provides better maintenance of finger correction. Participants will: * Undergo the surgical treatment indicated for camptodactyly, with skin coverage using either a radial longitudinal flap or a full-thickness skin graft, according to randomization; * Be evaluated before surgery and at 2, 4, 8, and 12 weeks and 6 months after surgery; * Have movement of the affected finger assessed using standardized goniometry; * Follow the postoperative rehabilitation protocol, including occupational therapy and nighttime extension splint use; * Complete assessments of hand function and satisfaction at the scheduled evaluation periods. * Approximately 42 eligible fingers will be randomized, with 21 fingers allocated to each treatment group. If a participant has more than one eligible finger, each eligible finger may be randomized independently.

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. 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 mutations have been identified, all leading to premature stop codons and the absence of functional lubricin. However, the exact pathophysiology of CACP syndrome remains incompletely understood. Clinical manifestations of CACP syndrome can vary, even within the same family. The progressive and slow onset can initially present as an incomplete clinical picture. However, camptodactyly (85- 100%) and arthropathy (100%) are constant features. Although genetically homogeneous, CACP exhibits significant intra- and interfamilial phenotypic variability due to secondary genetic factors, environmental modifiers, and complex molecular mechanisms. Camptodactyly is symmetrical, with variable distribution. It may affect fingers or toes and can be congenital or develop during childhood. Arthropathy is symmetrical, primarily involving large joints (wrists, knees, ankles, elbows, and hips). Coxa vara is present in 50-90% of cases, is progressive, and tends to worsen with age. Spinal abnormalities such as lordosis, scoliosis, and kyphosis are possible, though the cervical spine is generally spared. The articular manifestations of CACP syndrome may mimic juvenile idiopathic arthritis (JIA), and patients are often initially misdiagnosed and treated inappropriately. Joints appear swollen due to non-inflammatory synovial effusion and synovial thickening. They develop contractures, functional limitations, and sometimes musculoskeletal pain. Non-inflammatory pericarditis is reported in 30% of published cases, with variable clinical courses that may require surgical intervention in cases of constrictive pericarditis. The routine pathway of assessments and follow-up for patients with CACP syndrome includes an initial detailed evaluation and regular monitoring. Following the diagnosis, which is based on clinical history, imaging studies, and genetic confirmation of PRG4 mutations, patients undergo periodic clinical visits, generally scheduled every six months. During these visits, the progression of the disease, articular symptoms (e.g., camptodactyly, mobility limitations), and possible extraarticular complications, such as pericarditis, are assessed. Radiological (e.g., X-rays, MRI) and laboratory assessments, however, can be spaced out over longer intervals compared to the schedule of clinical visits, typically every 1-2 years, unless specific indications arise. Nonetheless, these examinations may be requested based on contingent clinical needs, such as a sudden worsening of symptoms or suspicion of complications. This flexible approach helps to balance thorough disease monitoring with minimizing the burden on patients, while ensuring personalized and timely management of the condition. At present, there is no specific pharmacological treatment for CACP. Management is primarily symptomatic and aimed at preventing joint deformities and extra-articular complications. Currently, no experimental therapies are available for CACP syndrome, but future research could explore gene therapy, regenerative medicine, and biologics. This study, involving pediatric and pediatric rheumatology centers across Italy and Europe, aims to collect epidemiological, clinical, and therapeutic data from a large cohort of patients. Its goals include better defining the disease's characteristics, understanding its natural history, and evaluating different therapeutic approaches and their efficacy. The study will also analyze potential genotypephenotype correlations.