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

SexALL

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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.

What they're measuring

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

Trial details

NCT IDNCT01307475

SponsorFreeman-Sheldon Research Group, Inc.

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2017-04-01

View on ClinicalTrials.gov More Arthrogryposis trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.