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

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

• Registration Number: NCT05419245
• Lead Sponsor: Dufresne, Craig, MD, PC

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.

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 Timeline

• Study Start: 2022-06-01
• Study First Submitted: 2022-06-03
• Study First Submitted QC: 2022-06-10
• Study First Posted: 2022-06-15
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-15
• Last Update Posted: 2022-07-19
• Primary Completion: 2023-12
• Study Completion: 2023-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

• 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 Criteria

• 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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Difference in intervention-related outcome rates between groups	During a single study interview, which lasts 1-2 hours	Outcomes for all interventions are rated as either acceptable, unacceptable, or potentially harmful/harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Difference in diagnostic accuracy between groups	During a single study interview, which lasts 1-2 hours	This is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.

Secondary Outcome Measures

Name	Time	Method
Difference in posttraumatic stress disorder symptoms between groups	1 week to 1 day before a single study interview, which lasts 1-2 hours	Posttraumatic stress symptoms are assessed using the self-completed and validated PTSD Checklist for DSM-5, a 20-item questionnaire; each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely".
Difference in depressive symptoms between groups	1 week to 1 day before a single study interview, which lasts 1-2 hours	Depressive symptoms are assessed using the self-completed and validated Center for Epidemiologic Studies Depression Scale.
Difference in facial appearance satisfaction between groups	1 week to 1 day before a single study interview, which lasts 1-2 hours	Facial appearance satisfaction is scored using the self-completed FACE-Q \| Craniofacial - Appearance of the Face.
Difference in facial muscle functioning symptoms between groups	1 week to 1 day before a single study interview, which lasts 1-2 hours	Facial muscle functioning symptoms are scored using the self-completed FACE-Q \| Craniofacial - Facial Function.
Difference in facial appearance distress between groups	1 week to 1 day before a single study interview, which lasts 1-2 hours	Facial appearance distress is scored using the self-completed FACE-Q \| Craniofacial - Appearance Distress.
Difference in quality-of-life between groups	1 week to 1 day before a single study interview, which lasts 1-2 hours	Quality-of-life is scored using the self-completed Modified Flanagan Quality of Life Scale.

Trial Locations

Locations (1)

Office of Craig R Dufresne, MD, PC; 🇺🇸 Fairfax, Virginia, United States