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Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2017 by Freeman-Sheldon Research Group, Inc.
Sponsor:
Information provided by (Responsible Party):
Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier:
NCT01144741
First received: June 14, 2010
Last updated: April 5, 2017
Last verified: April 2017
  Purpose

Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet.

This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. 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. 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 the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.


Condition Intervention
Freeman-Sheldon Syndrome
Arthrogryposis Distal Type 2A
Whistling Face Syndrome
Craniocarpotarsal Dysplasia
Craniocarpotarsal Dystrophy
Freeman-Sheldon Syndrome Variant
Sheldon-Hall Syndrome
Arthrogryposis Distal Type 2B
Gordon Syndrome
Arthrogryposis Distal Type 3
Arthrogryposis Distal Type 1
Arthrogryposis, Distal, Type 1A
Arthrogryposis Distal Type 1B
Arthrogryposis, Distal
Craniofacial Abnormalities
Arthrogryposis
Other: PTSD Checklist-Civilian (PCL-C)
Other: Modified Flanagan Quality of Life Scale
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Other: Functional Enquiry (or Review of Systems) Form
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Other: Medical Records Review

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome

Resource links provided by NLM:


Further study details as provided by Freeman-Sheldon Research Group, Inc.:

Primary Outcome Measures:
  • Physical Findings and Complications of Physical Findings [ Time Frame: during a single study interview, which lasts 1-2 hours ]
    The frequency to which certain features of the syndromes contribute to mortality or morbidity, especially life-long functional impairment.


Secondary Outcome Measures:
  • Posttraumatic Stress and Depressive Symptoms [ Time Frame: at study enrolment and during a single study interview, which lasts 1-2 hours ]
    Increased frequency of mental health symptoms (posttraumatic and depressive) over expected for general population


Other Outcome Measures:
  • Intervention-Related Outcome [ Time Frame: during a single study interview, which lasts 1-2 hours ]
    Self-report or medical record evidence of ability to complete activities of daily living and instrumental activities of daily living compared with abilities before each intervention reported and, if relevant, how long this change in abilities lasted

  • Quality of Life Status [ Time Frame: at enrolment and during a single study interview, which lasts 1-2 hours ]
    Stated and evidenced experience of life

  • Educational attainment [ Time Frame: during a single study interview, which lasts 1-2 hours ]
    Educational level completed compared with age

  • Diagnostic Accuracy for Freeman-Sheldon and Sheldon-Hall syndromes [ Time Frame: at study enrolment ]
    Correct diagnosis, using the Stevenson criteria

  • Correlations of Full and Partial Stevenson Criteria Freeman-Sheldon syndrome with [ Time Frame: at study enrolment and during a single study interview, which lasts 1-2 hours ]
    Significant differences or correlations of patients meeting the full Stevenson criteria for FSS with those fulfilling the craniofacial part of the Stevenson criteria, with or without additional malformations


Biospecimen Retention:   Samples With DNA
Any specimens received as part of records review, such as pathology microscope slides or frozen sections, will be retained as per institutional policy.

Estimated Enrollment: 20
Study Start Date: February 2010
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Freeman-Sheldon syndrome Classic Type
Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); "H" or "V" shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Other: Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
  • Quality of Life Scale
  • Quality of Life Instrument
  • Quality of Life Measure
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Other: Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Other Names:
  • Health History
  • Systems Review
  • Medical History
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Other Names:
  • Quality of Life Assessment
  • quality of life instrument
  • quality of life measure
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
  • Treatment Records Review
  • Review of Patient Notes
  • Patient Chart Review
  • Review of Clinical Data
Freeman-Sheldon syndrome Craniofacial Type
Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), "H" or "V" shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).
Other: PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Other: Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
  • Quality of Life Scale
  • Quality of Life Instrument
  • Quality of Life Measure
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Other: Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Other Names:
  • Health History
  • Systems Review
  • Medical History
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Other Names:
  • Quality of Life Assessment
  • quality of life instrument
  • quality of life measure
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
  • Treatment Records Review
  • Review of Patient Notes
  • Patient Chart Review
  • Review of Clinical Data
Freeman-Sheldon syndrome Mixed Type
Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.
Other: PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Other: Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
  • Quality of Life Scale
  • Quality of Life Instrument
  • Quality of Life Measure
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Other: Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Other Names:
  • Health History
  • Systems Review
  • Medical History
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Other Names:
  • Quality of Life Assessment
  • quality of life instrument
  • quality of life measure
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
  • Treatment Records Review
  • Review of Patient Notes
  • Patient Chart Review
  • Review of Clinical Data
Sheldon-Hall syndrome
Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Other: Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
  • Quality of Life Scale
  • Quality of Life Instrument
  • Quality of Life Measure
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Other: Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Other Names:
  • Health History
  • Systems Review
  • Medical History
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Other Names:
  • Quality of Life Assessment
  • quality of life instrument
  • quality of life measure
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
  • Treatment Records Review
  • Review of Patient Notes
  • Patient Chart Review
  • Review of Clinical Data
Distal Arthrogryposis Type 1
Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Other: Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
  • Quality of Life Scale
  • Quality of Life Instrument
  • Quality of Life Measure
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Other: Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Other Names:
  • Health History
  • Systems Review
  • Medical History
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Other Names:
  • Quality of Life Assessment
  • quality of life instrument
  • quality of life measure
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
  • Treatment Records Review
  • Review of Patient Notes
  • Patient Chart Review
  • Review of Clinical Data
Distal Arthrogryposis Type 3
Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and backbones curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Other: PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Other: Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
  • Quality of Life Scale
  • Quality of Life Instrument
  • Quality of Life Measure
Other: Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Other: Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Other Names:
  • Health History
  • Systems Review
  • Medical History
Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Other Names:
  • Quality of Life Assessment
  • quality of life instrument
  • quality of life measure
Other: Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
  • Treatment Records Review
  • Review of Patient Notes
  • Patient Chart Review
  • Review of Clinical Data

Detailed Description:

This study was initiated by the research assistant (Mikaela I. Poling) and assisted by another research assistant (J. Andrés Morales), as part of their academic project on these syndromes, under the supervision of the Principal Investigator (Robert L Chamberlain).

Classic FSS, SHS, DA1, and DA3 are poorly understood pathological entities that share some similar physical findings to FSS. 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 objectives for STOP-FSS are as follows: to evaluate (1) physical findings, possible frequency clusters, and complications of physical findings amongst patients with FSS; (2) posttraumatic stress and depressive symptoms and associated therapeutic outcomes in patients with FSS, using single-disease specific (i.e., posttraumatic stress symptoms, chronic depression) measures; (3) document treatment types and outcomes; (4) evaluate quality of life in patients with FSS, using a general quality of life self-report measure and syndrome-specific semi-structured quality of life interview; (5) educational attainment and services used; (6) evaluate diagnostic accuracy of FSS and SHS, using the Stevenson criteria; and (7) evaluate possible differences with patients meeting the full Stevenson criteria and those fulfilling the craniofacial part of the Stevenson criteria, with or without additional malformations.

The following hypotheses are thus proposed. First, it is suggested that physical findings and frequency clusters will be similar to those previously reported, but complications of physical findings amongst patients with FSS, having received little attention in the literature, will be pronounced and result in nearly as significant of a disease burden for the patient as the primary physical findings themselves, e.g., intercostal myopathy eventually leading to right heart failure in some patients. Second, it is suggested that FSS is associated with higher rates of posttraumatic stress symptoms, depressive symptoms than is observed in the general population. Third, it is suggested that physiotherapy alone or with surgery is expected to be superior to surgery alone, especially for patients with FSS, in treating most problems, but 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. Fourth, it is suggested that FSS is associated with reduced quality of life than is observed in the general population. Fifth, it is suggested that when patients with FSS who do not have neurocognitive features receive the appropriate academic services, they frequently excel beyond family and peers, and it is also suggested that most patients with FSS do not receive educational services that are responsive to their unique needs and abilities, e.g., placement in 'special' classes or schools based on the patient's appearance or poorly conducted intelligence tests. Sixth, it is suggested, based on systematic review and meta-analysis preliminary results, that two-thirds of patients with a stated diagnosis of FSS will not meet the Stevenson criteria and be rediagnosed, mostly as DA1. Seventh, it is suggested, based on systematic review and meta-analysis preliminary results, that two-thirds of patients with stated diagnosis of FSS who do not meet the Stevenson criteria, one-third will be meet the craniofacial stipulates of the Stevenson criteria, with or without additional malformations, and share a natural history with those who met the full Stevenson criteria.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
There are no patient enrollment restrictions based on gender, ethnicity, religion, socio-economic status, geographical location, or clinical setting.
Criteria

Inclusion Criteria:

  • Patients who have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.
  • Any of the following: (1) patients or parents of minor children willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
  • Persons who speak English, Spanish, German, Russian, or Czech.

Exclusion Criteria:

  • Patients who do not have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.
  • Any of the following: (1) patients or parents of minor children not willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who do not have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
  • Potentially persons who speak languages other than English, Spanish, German, Russian, or Czech, subject to translator availability
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01144741

Contacts
Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org
Contact: Andrés Morales, MBBS morales_a@@fsrgroup.org

Locations
United States, West Virginia
Freeman-Sheldon Research Group, Inc. Headquarters Recruiting
Buckhannon, West Virginia, United States, 26201
Contact: Mikaela I Poling, BA    304-460-9038    poling_mi@fsrgroup.org   
Principal Investigator: Robert L Chamberlain, MD         
Sub-Investigator: Mikaela I Poling, BA         
Guatemala
San Juan de Dios General Hospital Recruiting
Guatemala City, Guatemala
Contact: Andrés Morales, MBBS       morales_a@fsrgroup.org   
Sub-Investigator: Andrés Morales, MBBS         
Sponsors and Collaborators
Freeman-Sheldon Research Group, Inc.
Investigators
Principal Investigator: Robert L Chamberlain, MD Freeman-Sheldon Research Group, Inc.
  More Information

Additional Information:
Publications:
McKusick VA. Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM Number: %193700. 4 September 2008. www.ncbi.nlm.nih.gov/omim/

Study Data/Documents: Participant Information Sheet  This link exits the ClinicalTrials.gov site
This form is essentially the same as the informed consent document, except that it lacks signature blocks.
Letters to Doctors and Patients/Families  This link exits the ClinicalTrials.gov site
These letters provide background and other information for those who may be interested.

Responsible Party: Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier: NCT01144741     History of Changes
Other Study ID Numbers: 000063
U1111-1120-5851 ( Other Identifier: World Health Organisation, Universal Trial Number )
Study First Received: June 14, 2010
Last Updated: April 5, 2017
Individual Participant Data  
Plan to Share IPD: No
Plan Description: Individual patient data will not be shared, due to concerns involved in masking identities of individuals with such a rare condition.

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Freeman-Sheldon Research Group, Inc.:
rehabilitation
surgery
therapy
Quality Of Life
Health-Related Quality Of Life
Health Status
Depressive Symptoms
Situational Depression

Additional relevant MeSH terms:
Syndrome
Craniofacial Dysostosis
Arthrogryposis
Craniofacial Abnormalities
Cleft Palate
Clubfoot
Hand Deformities, Congenital
Disease
Pathologic Processes
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Congenital Abnormalities
Joint Diseases
Muscular Diseases
Jaw Abnormalities
Jaw Diseases
Maxillofacial Abnormalities
Stomatognathic Diseases
Mouth Abnormalities
Mouth Diseases
Stomatognathic System Abnormalities
Foot Deformities, Congenital
Foot Deformities
Lower Extremity Deformities, Congenital
Limb Deformities, Congenital
Hand Deformities
Upper Extremity Deformities, Congenital

ClinicalTrials.gov processed this record on April 26, 2017