ArthrogryposisFSS-QLSNCT01307475
Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
An observational study of Arthrogryposis and Craniofacial Abnormalities, run by Freeman-Sheldon Research Group, Inc. at 2 sites in 2 countries.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Arthrogryposis, Craniofacial Abnormalities, Posttraumatic Stress Disorder
- What is being tested?
- PTSD Checklist-Specific, Modified Flanagan Quality of Life Scale and Center for Epidemiologic Studies Depression Scale
- How many people
- 6 participants
- Where
- 2 sitesin 2 countries
- Study dates
- Feb 2011to 1 Apr 2017
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
United States1 site
Freeman-Sheldon Research Group, Inc. Headquarters
Buckhannon, West Virginia, 26201
About this study
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
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.
Read the detailed description
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.
- Conditions
- Arthrogryposis, Craniofacial Abnormalities, Posttraumatic Stress Disorder, Depressive Disorder
- Being tested
- PTSD Checklist-Specific, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Functional Enquiry Form, Strength, Joint ROM, Girth and Length Measurements
- Keywords
- Chronic Post-Traumatic Stress Disorder, Delayed Onset Post-Traumatic Stress Disorder, Post-Traumatic Neuroses, Posttraumatic Neuroses, Post-Traumatic Stress Disorders, Posttraumatic Stress Disorders, PTSD, Post TraumaticStress Disorder, Endogenous Depression, Neurotic Depression, Depressive Syndrome, Melancholia, Depressive Neurosis, Unipolar Depression, Depressive Symptoms, Emotional Depression, Quality of Life
- Medical subject headings
- Arthrogryposis, Craniofacial Abnormalities, Stress Disorders, Post-Traumatic, Depressive Disorder, Depression
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PTSD Checklist-SpecificOther
Also called PCL-S, PCL-C, PTSD Checklist-Civilian
Completed by patients before clinical examination; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life ScaleOther
Also called QOLS, Flanagan Quality of Life Scale, Quality of Life Scale
Completed by patients before clinical examination; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression ScaleOther
Also called CES-D
Completed by patients before clinical examination; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry FormOther
Also called FSRG Form 08, health history, review of systems, systems review
Completed by patients before clinical examination; it is a checklist of medical problems.
Strength, Joint ROM, Girth and Length MeasurementsOther
Also called SF 527, Standard Form 527, musculoskeletal examination, musculoskeletal exam
Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.
Study Physical ExaminationOther
Also called FSRG Form 14, physical examination, physical evaluation, physical assessment
Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination, minus breasts, genitalia or rectum.
PTSD, Depression, and FSS-Focused ExaminationOther
Also called psychiatric examination, psychiatric evaluation, psychiatric assessment, diagnostic mental health examination
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.
Freeman-Sheldon Specific Quality of Life SurveyOther
Also called psychometric test development, psychometric testing, psychometric test validation, quality of life scale development
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.
Lactate, Glucose, and Adenosine Triphosphate Blood LevelsOther
Also called ATP levels, ATP blood levels, adenosine triphosphate test, blood test for ATP
Completed during the clinical examination by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest.
| Study group | Role | What they receive |
|---|---|---|
| Proband Group | Patients identified with FSS or a related condition Receives: Other: PTSD Checklist-Specific; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Functional Enquiry Form; Other: Strength, Joint ROM, Girth and Length Measurements; Other: Study Physical Examination; Other: PTSD, Depression, and FSS-Focused Examination; Other: Freeman-Sheldon Specific Quality of Life Survey; Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels | |
| Family Group | Persons who are genetically or legally related to a person with FSS or related condition Receives: Other: PTSD Checklist-Specific; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Functional Enquiry Form; Other: Strength, Joint ROM, Girth and Length Measurements; Other: Study Physical Examination; Other: PTSD, Depression, and FSS-Focused Examination; Other: Freeman-Sheldon Specific Quality of Life Survey; Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels | |
| Other Affected Individuals Group | Persons who have had significant and meaningful contact with a person with FSS or related condition but do not qualify for family group enrolment Receives: Other: PTSD Checklist-Specific; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Functional Enquiry Form; Other: Strength, Joint ROM, Girth and Length Measurements; Other: Study Physical Examination; Other: PTSD, Depression, and FSS-Focused Examination; Other: Freeman-Sheldon Specific Quality of Life Survey; Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels |
What is being measured
The primary outcome is the main question the study is designed to answer.
Situational Mental Health in Persons with FSS or Related Condition
Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population
Measured: 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
Secondary outcomes (2)
Situational Mental Health in Family and Others with a Close Relationship to a Person with FSS or Related Condition
Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population
Measured: 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
Current Survey Correlation with Disorder-Specific Survey for FSS and Related Conditions
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.
Measured: 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Mar 2011 (estimated)
- Study startFeb 2011
- Primary completion1 Apr 2017
- Study completion1 Apr 2017
Why it stopped: Most study procedures incorporated into NCT01144741, some in NCT01306994
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (12)Papers the sponsor has linked to this study.
- Other trials for ArthrogryposisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Freeman-Sheldon Research Group, Inc.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Robert L Chamberlain, MD, Principal investigator, Freeman-Sheldon Research Group, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01307475
- Sponsor's protocol ID
- 000082
- Other IDs
- U1111-1120-5996
- Acronym
- FSS-QLS
- Status last verified
- Apr 2017
- First submitted
- 27 Feb 2011
- Last updated
- 4 Apr 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Individual patient data will not be shared, due to concerns involved in masking identities of individuals with such a rare condition.
Publications
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. doi: 10.1007/s004310050781.
PubMed 9504784Didierjean-Pillet A. [Psychological approach to congenital hand deformities. Congenital deformities, the desire to know]. Ann Chir Plast Esthet. 2002 Feb;47(1):2-8. doi: 10.1016/s0294-1260(01)00079-6. French.
PubMed 11980349Nagata 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.
PubMed 18675639Vitale 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. doi: 10.1097/01.bpo.0000157999.38424.ba.
PubMed 15958910Roye BD, Vitale MG, Gelijns AC, Roye DP Jr. Patient-based outcomes after clubfoot surgery. J Pediatr Orthop. 2001 Jan-Feb;21(1):42-9. doi: 10.1097/00004694-200101000-00010.
PubMed 11176352Vitale 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.
PubMed 11521031Hawkins SS, Radcliffe J. Current measures of PTSD for children and adolescents. J Pediatr Psychol. 2006 May;31(4):420-30. doi: 10.1093/jpepsy/jsj039. Epub 2005 Jun 9.
PubMed 15947119McCormick 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:bcr2015210935. doi: 10.1136/bcr-2015-210935.
PubMed 26174733McCormick 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:bcr2015211338. doi: 10.1136/bcr-2015-211338.
PubMed 26178231Chamberlain 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.
PubMed 26494722Poling 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. No abstract available.
PubMed 28034943Poling 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.
PubMed 28264711