Offered by: Nemours
Location: Delaware Valley
What is the trial about?
This study is to investigate a possible genetic defect in Escobar syndrome.
Who can participate?
People with Escobar syndrome and/or the biological parent of one of these patients.
What is involved?
There is 1 study visit required to obtain a blood sample for genetic testing specific to arthrogryposis and to complete an Escobar quality of life questionnaire. If a gene defect is found related to Escobar, we will ask parents to also enroll in this study. Collection of medical information from participants will continue for 2 years to help us better understand the clinical course of patients with Escobar. In addition if the participant is having orthopedic surgery as part of their regular medical care any time during the study we will ask to take a small piece of muscle from the surgical site to look at the effects of Escobar on the muscles.
Contact Nemours Clinical Trials
Trial Name: Genotype Influences on Clinical Outcomes in Arthrogryposis With Webbing: Escobar Syndrome