Study Stopped
Insufficient patient enrolment
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
STOP-FSS
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome
2 other identifiers
observational
2
1 country
1
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Feb 2010
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 1, 2010
CompletedFirst Submitted
Initial submission to the registry
June 14, 2010
CompletedFirst Posted
Study publicly available on registry
June 16, 2010
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 14, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
June 14, 2022
CompletedJune 21, 2022
June 1, 2022
12.4 years
June 14, 2010
June 15, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Physical Findings and Complications of Physical Findings
The frequency to which certain features of the syndromes contribute to mortality or morbidity, especially life-long functional impairment.
during a single study interview, which lasts 1-2 hours
Secondary Outcomes (1)
Posttraumatic Stress and Depressive Symptoms
at study enrolment and during a single study interview, which lasts 1-2 hours
Other Outcomes (5)
Intervention-Related Outcome
during a single study interview, which lasts 1-2 hours
Quality of Life Status
at enrolment and during a single study interview, which lasts 1-2 hours
Educational attainment
during a single study interview, which lasts 1-2 hours
- +2 more other outcomes
Study Arms (6)
Freeman-Sheldon syndrome Classic Type
Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); "H" or "V" shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Freeman-Sheldon syndrome Craniofacial Type
Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), "H" or "V" shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).
Freeman-Sheldon syndrome Mixed Type
Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.
Sheldon-Hall syndrome
Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Distal Arthrogryposis Type 1
Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Distal Arthrogryposis Type 3
Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and backbones curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Interventions
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Eligibility Criteria
There are no patient enrollment restrictions based on gender, ethnicity, religion, socio-economic status, geographical location, or clinical setting.
You may qualify if:
- Patients who have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.
- Any of the following: (1) patients or parents of minor children willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
- Persons who speak English, Spanish, German, Russian, or Czech.
You may not qualify if:
- Patients who do not have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.
- Any of the following: (1) patients or parents of minor children not willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who do not have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
- Potentially persons who speak languages other than English, Spanish, German, Russian, or Czech, subject to translator availability
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Freeman-Sheldon Research Group, Inc. Headquarters
Buckhannon, West Virginia, 26201, United States
Related Publications (2)
Poling MI, Morales Corado JA, Chamberlain RL. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev. 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4.
PMID: 28264711BACKGROUNDChamberlain RL, Poling MI, Portillo AL, Morales A, Ramirez RR, McCormick RJ. Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. BMJ Case Rep. 2015 Oct 22;2015:bcr2015212607. doi: 10.1136/bcr-2015-212607.
PMID: 26494722RESULT
Biospecimen
Any specimens received as part of records review, such as pathology microscope slides or frozen sections, will be retained as per institutional policy.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 14, 2010
First Posted
June 16, 2010
Study Start
February 1, 2010
Primary Completion
June 14, 2022
Study Completion
June 14, 2022
Last Updated
June 21, 2022
Record last verified: 2022-06
Data Sharing
- IPD Sharing
- Will not share
Individual patient data will not be shared, due to concerns involved in masking identities of individuals with such a rare condition.