Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

Status unconfirmed

Conditions studied: Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome

In brief

The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1. The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview. The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.

Key facts

Study ID

NCT05419245

Run by

Dufresne, Craig, MD, PC

People needed

20

Starts

2022-06-01

Expected to finish

2023-12-01

Last updated by the study team

2022-07-19

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Patients who are able to provide informed consent or have a legally appointed representative who is able to provide informed consent
• Patients who have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3
• Persons who speak and read English, German, Russian, or Czech

You may not qualify if…

• Patients who are not able to provide informed consent or do not have a legally appointed representative who is able to provide informed consent
• Patients who do not have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3
• Persons who do not speak or read English, German, Russian, or Czech

Where it is running

• Office of Craig R Dufresne, MD, PC — Fairfax, Virginia, United States (enrolling)

Full record on ClinicalTrials.gov

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