Expired Study
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Buckhannon, West Virginia 26201


Purpose:

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.


Study summary:

This study is a research project initiated by the graduate research student (Mikaela I. Poling) and assisted by the clinical genetics fellow and graduate student (Andrés Morales) in partial fulfilment the requirements for their Masters degrees in Clinical and Applied Physiology, under approval, direction, and supervision of the study PI (Rodger J. McCormick). Mental Health and Congenital Deformities: Apajasalo et al. (1998) found significantly decreased health-related quality of life versus controls among adults and youth ages with chondrodysplasias. Differences in adult scores were in the areas of mobility, usual activities, and sexual activity and discomfort. Youth scores differed more in school and hobbies and friends and physical appearance. Didierjean-Pillet (2002) stressed concern for aesthetics of reconstruction in consideration of psychiatric impacts of congenital deformities in psychosocial functioning. Nagata et al. (2008) found that 20% of mothers with children operated on for congenital disease were likely to have post-traumatic stress disorder (PTSD). They found that pro-active, effective participation in the child's care may alleviate PTSS. Vitale et al. (2005) found quality of life survey scores among clubfoot patients compatible with age-matched controls, in agreement with Roye (2001), and not correlated to radiograph appearance. They advised quality of life survey scores be primary endpoint in determining therapeutic outcome. Engell et al. (2007) found significant post-operative improvement in the Short Form-12 Health Survey physical component scale in congenital clubbed-foot patients in the Danish Twin Registry. Vitale et al. (2001) observed that tailored quality of life scales were required for paediatric orthopaedic populations. Hawkins and Radcliffe (2006) concluded there was a lack of appropriate and validated PTSD measures for paediatric patients. Part of this problem of lacking validated paediatric PTSD measures was likely do to non-comprehensive Diagnostic and Statistical Manual of Mental Disorders IV Text-Revision criteria. Relevance to Current Study: Because FSS-related deformities were more comprehensive, treatment-resistant, and associated with poorer clinical outcome, quality of life studies not including a subset of FSS patients may not be appropriate in the more challenging clinical picture of FSS-related deformities. In many conditions, disorder-specific quality of life measures (QLM) showed increased sensitivity and specificity over general QLMs and were important therapeutic tools to assess efficacy of and prioritise interventions. Results of disorder-specific QLMs were important predictors of clinical outcome.


Criteria:

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.


Study is Available At:


Original ID:

000082


NCT ID:

NCT01307475


Secondary ID:

U1111-1120-5996


Study Acronym:

FSS-QLS


Brief Title:

Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions


Official Title:

Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome


Overall Status:

Terminated


Study Phase:

N/A


Genders:

N/A


Minimum Age:

N/A


Maximum Age:

N/A


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

Freeman-Sheldon Research Group, Inc.


Oversight Authority:

United States: Institutional Review Board


Reasons Why Stopped:

Most study procedures incorporated into NCT0


Study Type:

Observational


Study Design:


Number of Arms:

0


Number of Groups:

3


Total Enrollment:

6


Enrollment Type:

Actual


Overall Contact Information

Official Name:Robert L Chamberlain, MD
Principal Investigator
Freeman-Sheldon Research Group, Inc.

Study Dates

Start Date:February 2011
Completion Date:April 1, 2017
Completion Type:Actual
Primary Completion Date:April 1, 2017
Primary Completion Type:Actual
Verification Date:April 2017
Last Changed Date:April 2, 2017
First Received Date:February 27, 2011

Study Outcomes

Outcome Type:Secondary Outcome
Measure:Current Survey Correlation with Disorder-Specific Survey for FSS and Related Conditions
Time Frame:Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surve
Safety Issues:False
Description:Ability of current surveys to capture full picture of quality of life for persons, families, and others affected by FSS and related conditions will be assessed to determine need for a disorder-specific survey and usefulness of existing surveys.
Outcome Type:Secondary Outcome
Measure:Situational Mental Health in Family and Others with a Close Relationship to a Person with FSS or Related Condition
Time Frame:Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surve
Safety Issues:False
Description:Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population
Outcome Type:Primary Outcome
Measure:Situational Mental Health in Persons with FSS or Related Condition
Time Frame:Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surve
Safety Issues:False
Description:Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population

Study Interventions

Intervention Type:Other
Name:PTSD Checklist-Specific
Description:Completed by patients before clinical examination; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Arm Name:Proband Group
Other Name:PCL-S
Intervention Type:Other
Name:Modified Flanagan Quality of Life Scale
Description:Completed by patients before clinical examination; it is a 16-item survey designed for use in persons with chronic illness.
Arm Name:Proband Group
Other Name:QOLS
Intervention Type:Other
Name:Center for Epidemiologic Studies Depression Scale
Description:Completed by patients before clinical examination; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Arm Name:Proband Group
Other Name:CES-D
Intervention Type:Other
Name:Functional Enquiry Form
Description:Completed by patients before clinical examination; it is a checklist of medical problems.
Arm Name:Proband Group
Other Name:FSRG Form 08
Intervention Type:Other
Name:Strength, Joint ROM, Girth and Length Measurements
Description:Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.
Arm Name:Proband Group
Other Name:SF 527
Intervention Type:Other
Name:Study Physical Examination
Description:Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination, minus breasts, genitalia or rectum.
Arm Name:Proband Group
Other Name:FSRG Form 14
Intervention Type:Other
Name:PTSD, Depression, and FSS-Focused Examination
Description:Completed during the clinical examination by the researchers, it is a structured approach to evaluation of symptoms, signs, and perceptions that may be related to FSS, PTSS, or depressive problems.
Arm Name:Proband Group
Other Name:psychiatric examination
Intervention Type:Other
Name:Freeman-Sheldon Specific Quality of Life Survey
Description:Completed after data analysis from the existing surveys and clinical examination, it will be a specific quality of life survey developed and tested during the study; it will take into consideration individual's total health outcome.
Arm Name:Proband Group
Other Name:psychometric test development
Intervention Type:Other
Name:Lactate, Glucose, and Adenosine Triphosphate Blood
Description:Completed during the clinical examination by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest.
Arm Name:Proband Group
Other Name:ATP levels

Study Arms

Study Arm Type:Other
Arm Name:Proband Group
Description:Patients identified with FSS or a related condition
Study Arm Type:Other
Arm Name:Family Group
Description:Persons who are genetically or legally related to a person with FSS or related condition
Study Arm Type:Other
Arm Name:Other Affected Individuals Group
Description:Persons who have had significant and meaningful contact with a person with FSS or related condition but do not qualify for family group enrolment

Study Agencies

Agency Class:Other
Agency Type:Lead Sponsor
Agency Name:Freeman-Sheldon Research Group, Inc.

Samples and Retentions

Sample Retention:None Retained
Description: Blood samples will be taken but no retention is expected.
Study Population: Patients, family, and others affected world-wide are welcome, so long as they currently or previously have had significant and meaningful contact with a person who has a qualifying diagnosis.
Sample Method:Non-Probability Sample

Study References

Reference Type:Results Reference
Citation: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:28264711
Reference Type:Results Reference
Citation:Poling MI, Dufresne CR, Chamberlain RL. Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis. Br J Gen Pract. 2017 Jan;67(654):32-33. doi: 10.3399/bjgp17X688705.
PMID:28034943
Reference Type:Results Reference
Citation:Chamberlain 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. pii: bcr2015212607. doi: 10.1136/bcr-2015-212607.
PMID:26494722
Reference Type:Results Reference
Citation:McCormick RJ, Poling MI, Chamberlain RL. Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus. BMJ Case Rep. 2015 Jul 15;2015. pii: bcr2015211338. doi: 10.1136/bcr-2015-211338.
PMID:26178231
Reference Type:Results Reference
Citation:McCormick RJ, Poling MI, Portillo AL, Chamberlain RL. Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years. BMJ Case Rep. 2015 Jul 14;2015. pii: bcr2015210935. doi: 10.1136/bcr-2015-210935.
PMID:26174733
Reference Type:Reference
Citation:Hawkins SS, Radcliffe J. Current measures of PTSD for children and adolescents. J Pediatr Psychol. 2006 May;31(4):420-30. Epub 2005 Jun 9. Review.
PMID:15947119
Reference Type:Reference
Citation:Vitale MG, Levy DE, Johnson MG, Gelijns AC, Moskowitz AJ, Roye BP, Verdisco L, Roye DP Jr. Assessment of quality of life in adolescent patients with orthopaedic problems: are adult measures appropriate? J Pediatr Orthop. 2001 Sep-Oct;21(5):622-8.
PMID:11521031
Reference Type:Reference
Citation:Roye BD, Vitale MG, Gelijns AC, Roye DP Jr. Patient-based outcomes after clubfoot surgery. J Pediatr Orthop. 2001 Jan-Feb;21(1):42-9.
PMID:11176352
Reference Type:Reference
Citation:Vitale MG, Choe JC, Vitale MA, Lee FY, Hyman JE, Roye DP Jr. Patient-based outcomes following clubfoot surgery: a 16-year follow-up study. J Pediatr Orthop. 2005 Jul-Aug;25(4):533-8.
PMID:15958910
Reference Type:Reference
Citation:Nagata S, Funakosi S, Amae S, Yoshida S, Ambo H, Kudo A, Yokota A, Ueno T, Matsuoka H, Hayashi Y. Posttraumatic stress disorder in mothers of children who have undergone surgery for congenital disease at a pediatric surgery department. J Pediatr Surg. 2008 Aug;43(8):1480-6. doi: 10.1016/j.jpedsurg.2007.12.055.
PMID:18675639
Reference Type:Reference
Citation:Didierjean-Pillet A. [Psychological approach to congenital hand deformities. Congenital deformities, the desire to know]. Ann Chir Plast Esthet. 2002 Feb;47(1):2-8. French.
PMID:11980349
Reference Type:Reference
Citation:Apajasalo M, Sintonen H, Rautonen J, Kaitila I. Health-related quality of life of patients with genetic skeletal dysplasias. Eur J Pediatr. 1998 Feb;157(2):114-21.
PMID:9504784

Data Source: ClinicalTrials.gov

Date Processed: October 09, 2019

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