Status:
UNKNOWN
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Lead Sponsor:
Dufresne, Craig, MD, PC
Conditions:
Freeman-Burian Syndrome
Freeman-Sheldon Syndrome
Eligibility:
All Genders
Brief Summary
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 respirato...
Detailed Description
According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall sy...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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
Key Trial Info
Start Date :
June 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2023
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT05419245
Start Date
June 1 2022
End Date
December 1 2023
Last Update
July 19 2022
Active Locations (1)
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1
Office of Craig R Dufresne, MD, PC
Fairfax, Virginia, United States, 22031