Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions (NCT01307475) | Clinical Trial Compass
TerminatedNot Applicable
Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
Stopped: Most study procedures incorporated into NCT01144741, some in NCT01306994
United States, Guatemala6 participantsStarted 2011-02
Plain-language summary
Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities.
The hypotheses in the present study of FSS and related conditions are: (1) FSS and related conditions are associated with higher rates of posttraumatic stress symptoms (PTSS), depression, and reduced quality of life than is observed in the general population; (2) persons close to an individual with FSS or related condition suffer similarly; and (3) current measures, which are single-disease specific (i.e., PTSS, depression, craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve both limb and craniofacial deformities in an intellectually capable individual.
There have been no studies looking at quality of life associated with FSS. Some authors have looked at quality of life in persons with facial differences; other authors have looked at bone and joint problems. Many other authors have looked at PTSS and depression caused by health problems and bad medical experiences. No authors have looked at these problems when they happen together, as they do in FSS. Because of the above, there may be differences in patients that have FSS versus patients in previous quality of life studies. The study will also develop and validate an outcomes-based quality of life survey for FSS and related conditions.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Freeman-Sheldon syndrome,
* Sheldon-Hall syndrome,
* Distal arthrogryposis type 1, or
* distal arthrogryposis type 3
* Deceased probands with enough clinical information available to satisfy study requirements
* Probands who participated in a prior Freeman-Sheldon Research Group (FSRG)-study are automatically accepted, since their diagnoses have been confirmed by FSRG clinical faculty.
* Probands with a reported qualifying diagnosis, who have not participated in a prior FSRG-study, will be required to complete the complete a survey from a prior study and provide photographs and any requested medical records to confirm their diagnoses.
* Family members and other close contacts may enrol, so long as they have either resided with or had substantial and prolonged contact with a proband, who has an FSRG-verified qualifying diagnosis. Investigators will make the final decision on a case-by-case basis, based on information provided.
Exclusion Criteria:
* Patients with other anomalies, not having one of the above syndromes, will not be accepted.
* Deceased probands will not be accepted for analysis, without enough clinical data available to satisfy study data collection requirements.
* Patients or parents of minor children not willing to give consent will not be included.
* Family members or other contacts that neither resided with nor had substantial and prolonged contact with the proband.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Situational Mental Health in Persons with FSS or Related Condition
Timeframe: Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment