Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Public ClinicalTrials.gov record NCT01144741. 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
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet. This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. These and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. It is hoped the study will identify areas for further research in physiology and therapy. This study will cover all types of treatment \[medical (non-surgical), including psychiatric, and surgical treatments\], even unconventional. It also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.
Study identification
- NCT ID
- NCT01144741
- Recruitment status
- Terminated
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 2 participants
Conditions and interventions
Conditions
- Freeman-Sheldon Syndrome
- Arthrogryposis Distal Type 2A
- Whistling Face Syndrome
- Craniocarpotarsal Dysplasia
- Craniocarpotarsal Dystrophy
- Freeman-Sheldon Syndrome Variant
- Sheldon-Hall Syndrome
- Arthrogryposis Distal Type 2B
- Gordon Syndrome
- Arthrogryposis Distal Type 3
- Arthrogryposis Distal Type 1
- Arthrogryposis, Distal, Type 1A
- Arthrogryposis Distal Type 1B
- Arthrogryposis, Distal
- Craniofacial Abnormalities
- Arthrogryposis
Interventions
- PTSD Checklist-Civilian (PCL-C) Other
- Modified Flanagan Quality of Life Scale Other
- Center for Epidemiologic Studies Depression Scale (CES-D) Other
- Functional Enquiry (or Review of Systems) Form Other
- Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire Other
- FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI) Other
- Medical Records Review 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
- Jan 31, 2010
- Primary completion
- Jun 13, 2022
- Completion
- Jun 13, 2022
- Last update posted
- Jun 20, 2022
2010 – 2022
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Freeman-Sheldon Research Group, Inc. Headquarters | Buckhannon | West Virginia | 26201 | — |
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 NCT01144741, 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 Jun 20, 2022 · Synced Sep 6, 2026
Related: full search, browse by condition, browse by drug or therapy, browse by sponsor, browse by U.S. city.
Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01144741 live on ClinicalTrials.gov.