Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Public ClinicalTrials.gov record NCT05419245. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT05419245
- Recruitment status
- Not listed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 20 participants
Conditions and interventions
Conditions
Interventions
- Guided Health History for Freeman-Burian Syndrome Questionnaire Other
- Freeman-Burian syndrome Semi-Structured Quality of Life Interview Other
- Medical Records Review Other
- PTSD Checklist for DSM-5 Other
- Modified Flanagan Quality of Life Scale Other
- Center for Epidemiologic Studies Depression Scale Other
- Review of Systems Other
- FACE-Q | Craniofacial - Appearance of the Face Other
- FACE-Q | Craniofacial - Appearance Distress Other
- FACE-Q | Craniofacial - Facial Function Other
Other
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- May 31, 2022
- Primary completion
- Nov 30, 2023
- Completion
- Nov 30, 2023
- Last update posted
- Jul 18, 2022
2022 – 2023
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Office of Craig R Dufresne, MD, PC | Fairfax | Virginia | 22031 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT05419245, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jul 18, 2022 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT05419245 live on ClinicalTrials.gov.