Ignite Creation Date:
2024-05-06 @ 5:44 PM
Last Modification Date:
2024-10-26 @ 2:35 PM
Study NCT ID:
NCT05419245
Status:
UNKNOWN
Last Update Posted:
2022-07-19
First Post:
2022-06-03
Brief Title:
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Sponsor:
Dufresne Craig MD PC
Organization:
Dufresne Craig MD PC
Study Overview
Official Title:
Findings Diagnostic Accuracy Treatment and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes a Cross-sectional Non-randomized Study
Status:
UNKNOWN
Status Verified Date:
2022-07
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
FINDFSS
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 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
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
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 syndrome and distal arthrogryposis DA types 3 and 1 Unfortunately while these conditions are different from FBS many think of them as being less severe versions of FBS This is not true FBS is a skull and face syndrome while Sheldon-Hall syndrome and DA types 1 and 3 are syndromes of the arms legs hands and feet that except DA type 1 may have mild face deformities It is important to understand this difference FBS does not respond well to treatment The other syndromes generally do respond well to treatment To improve diagnosis and treatment it is important to understand factors contributing to an accurate diagnosis and treatment outcome To provide better evidence for these being very different syndromes it also is important to compare the above areas of health between people with all of these syndromes It is hoped the study will help improve treatment and identify areas for further research
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None