Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS)
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Purpose
Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities.
This is a study to determine what treatments are helpful to patients with FSS and Sheldon-Hall syndromes (SHS). 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. There is also substantial overlap with distal arthrogryposis type 1 (DA1) and 3 (DA3). 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 siblings, family, and parents' relationship and if any intervention was required or advised.
Others have published criteria for diagnosis of FSS and SHS, which is very important. Treatment success depends on getting a correct diagnosis, and the present study builds on this work by investigating the best ways to treat patients with FSS and SHS, depending on what's wrong and how severe the FSS and SHS is in that patient.
| Condition | Intervention |
|---|---|
|
Arthrogryposis Craniofacial Abnormalities |
Other: STOP-FSS Survey Other: Medical Records Review |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Retrospective |
| Official Title: | Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome: a Retrospective, Cohort Survey |
- Syndrome Severity and Syndrome-Related Morbidity and Mortality [ Time Frame: Evaluated from enrolment until study conclusion, an average of 2-4 years ] [ Designated as safety issue: Yes ]Syndrome severity and syndrome-related morbidity and mortality will be evaluated on survey, during records review, and follow-up.
| Estimated Enrollment: | 20 |
| Study Start Date: | February 2010 |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
Classic Freeman-Sheldon syndrome
Patients with features consistent with this diagnosis.
|
Other: STOP-FSS Survey
STOP-FSS Survey is a self-report measure that will be used to assess diagnosis- and feature-related outcomes.
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
Sheldon-Hall syndrome
Patients with features consistent with this diagnosis.
|
Other: STOP-FSS Survey
STOP-FSS Survey is a self-report measure that will be used to assess diagnosis- and feature-related outcomes.
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
Distal arthrogryposis type 1
Patients with features consistent with this diagnosis.
|
Other: STOP-FSS Survey
STOP-FSS Survey is a self-report measure that will be used to assess diagnosis- and feature-related outcomes.
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
Distal arthrogryposis type 3
Patients with features consistent with this diagnosis.
|
Other: STOP-FSS Survey
STOP-FSS Survey is a self-report measure that will be used to assess diagnosis- and feature-related outcomes.
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
Detailed Description:
This study is a research project initiated by the research student (Mikaela I. Poling) in partial fulfilment the FSRG Foundation Programme, under approval, direction, and supervision of the study PI (Rodger J. McCormick) and Sub-Investigator (Gerald P. Perman).
Classic FSS, SHS, DA1, and DA3 are poorly understood pathological entities within a similar clinical FSS-like syndrome. Stevenson et al. (2006) provided the only study to date on FSS features and history. They did not, however, focus on therapeutic outcomes, and there was limited anecdotal outcome data in single and multiple case reports.
The study objectives are as follows to evaluate: (1) diagnosis-related outcome trends, (2) feature-specific outcomes, and (3) general interventions' association with outcomes for all and each diagnosis. It is hoped the study will identify areas for further research in physiology and therapeutics in classic FSS, SHS, DA1, and DA3.
The following hypotheses are thus proposed: (1) classic FSS is expected to have the worse overall outcome, involving significant life-long musculoskeletal functional impairment and severe cases involving pulmonary complications; (2) SHS, DA1, and DA3 are expected to show moderate and mild life-long impairment that is also more responsive to intervention and improves with age, even in absence of intervention; (3) spinal, hand, and feet deformities are associated with the worst outcomes that may include life-long functional impairment, especially in classic FSS and SHS; (4) physiotherapy alone or with surgery is expected to be superior to surgery alone in treating most problems; and (5) surgery may have an important role, especially treating blepharophimosis and in combination with intensive pre- and post-operative physiotherapy in treating selective tendon lengthening in hands and feet.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Patients world-wide are welcome, so long as they have a qualifying diagnosis.
Inclusion Criteria:
- Classic Freeman-Sheldon syndrome,
- Sheldon-Hall syndrome,
- Distal arthrogryposis type 1, or
- Distal arthrogryposis type 3
- Deceased individuals with enough clinical data available to satisfy study requirements
Exclusion Criteria:
- Deceased individuals without enough clinical data available to satisfy study requirements
- Patients or parents of minor children not willing to give consent
- Healthy volunteers
- Individuals not confirmed by study investigators to have a diagnosis under study
Contacts and Locations| Contact: Gerald P Perman, MD | 202-331-8213 | gpperman@gmail.com |
| Contact: Mikaela I Poling, BA | 304-460-9038 | poling_mi@fsrgroup.org |
| United States, West Virginia | |
| Freeman-Sheldon Research Group, Inc. Headquarters | Recruiting |
| Buckhannon, West Virginia, United States, 26201 | |
| Contact: Gerald P Perman, MD 202-331-8213 gpperman@gmail.com | |
| Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org | |
| Principal Investigator: Rodger J McCormick, DEd, MS | |
| Sub-Investigator: Robert L Chamberlain, MD | |
| Sub-Investigator: Gerald P Perman, MD | |
| Sub-Investigator: Mikaela I Poling, BA | |
| Principal Investigator: | Rodger J McCormick, DEd, MS | Freeman-Sheldon Research Group, Inc. |
More Information
Additional Information:
Publications:
| Responsible Party: | Freeman-Sheldon Research Group, Inc. |
| ClinicalTrials.gov Identifier: | NCT01144741 History of Changes |
| Other Study ID Numbers: | 000063, U1111-1120-5851 |
| Study First Received: | June 14, 2010 |
| Last Updated: | October 26, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Freeman-Sheldon Research Group, Inc.:
|
rehabilitation surgery therapy |
Additional relevant MeSH terms:
|
Congenital Abnormalities Arthrogryposis Craniofacial Dysostosis Craniofacial Abnormalities Joint Diseases Musculoskeletal Diseases |
Muscular Diseases Musculoskeletal Abnormalities Dysostoses Bone Diseases, Developmental Bone Diseases |
ClinicalTrials.gov processed this record on May 22, 2013