This research study aims to better understand patient experiences with accessing genetic counseling services for hypermobile Ehlers-Danlos syndrome (hEDS). The study will include a review of MUSC medical records to better understand referral patterns to genetic counseling services among patients with hEDS. Patients with hEDS will also be asked to complete a survey about their experiences with accessing genetic counseling services. Healthcare providers will be asked to complete a separate survey about their experiences referring patients with hEDS to genetic counseling services and potential factors that may influence the referral process. The surveys will take approximately 10-15 minutes to complete.
There are minimal risks to participants but may include possible loss of confidentiality or discomfort when answering questions related to healthcare experiences. There is no direct benefit to participants, but the information provided may help improve access to genetic counseling services for future patients with hEDS. Participation in the surveys is completely voluntary.
This is a randomized, double-blind, placebo-controlled, multicenter, parallel-group
study of the efficacy and safety of 2 weight-based treatment groups of plecanatide
versus placebo in children and adolescent participants 6 to less than 18 years of age with FC. Randomization will be stratified by sex to ensure balance across treatment groups.
Approximately 30 participants will be randomized to each of the Placebo, Low
Dose, and High Dose groups, within age group. Low Dose and High Dose will be
assigned once daily treatments based on the weight of the participant at
randomization to achieve weight-based dosing of 0.025 to 0.05 mg/kg in the Low
Dose treatment group and 0.05 to 0.1 mg/kg in the High Dose treatment group.
The goal of the DDRCC Biorepository is to collect human samples and health information to store for future research. Samples to be collected are blood, tissue (gastrointestinal, liver, pancreas and/or lymph nodes), stool, and cheek swabs. Participants may be eligible to enroll if scheduled for a clinical visit or surgical procedure during which these samples could be collected.