Congenital limb malformation

This early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…

This trial compares two surgical procedures for children aged 5 to 10 with relapsed clubfoot and a specific foot deformity called metatarsal adductus. One surgery involves cutting and realigning the midfoot bones, followed by 6 weeks in a cast. The other uses a small plate to gui…

This study tests whether adding Kinesio Taping (a special elastic tape) to standard hand therapy can improve movement and strength after extensor tendon repair. About 36 adults with a specific finger tendon injury will be randomly assigned to get either real tape or a fake tape, …

This pilot study tests whether N-acetylcysteine (NAC), an antioxidant supplement, can reduce repetitive and self-injurious behaviors in people with Cornelia de Lange syndrome (CdLS). Ten participants aged 13–35 will receive both NAC and a placebo in random order over 18 weeks. Th…

This study looks at whether custom-made shoes can improve walking quality in people who have had a stroke and still have trouble walking due to muscle tightness and foot dragging. About 58 adults who had a stroke at least 6 months ago will wear adapted shoes and be tested on how …

This study will use ultrasound to measure the distance between the Achilles tendon and nearby nerves and blood vessels in both feet of 40 infants with unilateral clubfoot. By comparing the clubfoot to the normal foot, researchers hope to give surgeons better guidance to avoid acc…

This study aims to better understand pain in people with a rare genetic form of arthrogryposis (stiff joints) caused by a PIEZO2 mutation. About 12 participants aged 10 and older will track their pain daily for two weeks using simple questionnaires and body charts. No drugs or tr…

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

This study will look at 30 teens aged 12-20 with thoracic adolescent idiopathic scoliosis to see if the type of spinal curve affects their breathing, exercise ability, and sleep quality. Participants will be grouped by curve pattern (T-type or TL-type) and undergo standard tests …