Freeman-Sheldon SyndromeSTOP-FSSNCT01144741
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
An observational study of Freeman-Sheldon Syndrome and Arthrogryposis Distal Type 2A, run by Freeman-Sheldon Research Group, Inc. at 1 site in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome
- What is being tested?
- PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale and Center for Epidemiologic Studies Depression Scale (CES-D)
- How many people
- 2 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2010to 14 Jun 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
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: There are no patient enrollment restrictions based on gender, ethnicity, religion, socio-economic status, geographical location, or clinical setting.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Freeman-Sheldon Research Group, Inc. Headquarters
Buckhannon, West Virginia, 26201
About this study
Official title: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome
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.
Read the 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.
- Conditions
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia, Craniocarpotarsal Dystrophy, Freeman-Sheldon Syndrome Variant
- Being tested
- PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale (CES-D), Functional Enquiry (or Review of Systems) Form, Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
- Keywords
- rehabilitation, surgery, therapy, Quality Of Life, Health-Related Quality Of Life, Health Status, Depressive Symptoms, Situational Depression
- Medical subject headings
- Freeman-Sheldon syndrome, Distal arthrogryposis type 2B, Gordon syndrome, Pseudohypoaldosteronism, Digitotalar Dysmorphism, Arthrogryposis, Craniofacial Abnormalities, Depression
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PTSD Checklist-Civilian (PCL-C)Other
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life ScaleOther
Also called Quality of Life Scale, Quality of Life Instrument, Quality of Life Measure
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)Other
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) FormOther
Also called Health History, Systems Review, Medical History
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) QuestionnaireOther
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)Other
Also called Quality of Life Assessment, quality of life instrument, quality of life measure
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.
Medical Records ReviewOther
Also called Treatment Records Review, Review of Patient Notes, Patient Chart Review, Review of Clinical Data
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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 | |
| 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). Receives: 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 | |
| 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. Receives: 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 | |
| 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. Receives: 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 | |
| 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. Receives: 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 | |
| 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. Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Physical Findings and Complications of Physical Findings
The frequency to which certain features of the syndromes contribute to mortality or morbidity, especially life-long functional impairment.
Measured: during a single study interview, which lasts 1-2 hours
Secondary outcomes (1)
Posttraumatic Stress and Depressive Symptoms
Increased frequency of mental health symptoms (posttraumatic and depressive) over expected for general population
Measured: at study enrolment and during a single study interview, which lasts 1-2 hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jun 2010 (estimated)
- Study startFeb 2010
- Primary completion14 Jun 2022
- Study completion14 Jun 2022
Why it stopped: Insufficient patient enrolment
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Freeman-Sheldon SyndromeStudies 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
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Freeman-Sheldon Research Group, Inc.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01144741
- Sponsor's protocol ID
- 000063
- Other IDs
- U1111-1120-5851
- Acronym
- STOP-FSS
- Status last verified
- Jun 2022
- First submitted
- 14 Jun 2010
- Last updated
- 21 Jun 2022
- 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
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.
PubMed 28264711Chamberlain 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 26494722
Study at a glance
From the registry record, last updated by the sponsor on 21 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome
- ClinicalTrials.gov ID
- NCT01144741
- Acronym / sponsor ID
- STOP-FSS / 000063
- Conditions
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia, Craniocarpotarsal Dystrophy, Freeman-Sheldon Syndrome Variant
- Keywords
- rehabilitation, surgery, therapy, Quality Of Life, Health-Related Quality Of Life, Health Status, Depressive Symptoms, Situational Depression
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Insufficient patient enrolment
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Freeman-Sheldon Research Group, Inc.University, hospital or other
- Study start
- Feb 2010 (actual)
- Primary completion
- 14 Jun 2022 (actual)
- Study completion
- 14 Jun 2022 (actual)
- First posted
- 16 Jun 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Freeman-Sheldon syndrome Classic Type | – | 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 ReviewPatients 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. |
| Freeman-Sheldon syndrome Craniofacial Type | – | 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 ReviewPatients 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). |
| Freeman-Sheldon syndrome Mixed Type | – | 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 ReviewPatients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems. |
| Sheldon-Hall syndrome | – | 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 ReviewPatients 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. |
| Distal Arthrogryposis Type 1 | – | 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 ReviewPatients 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. |
| Distal Arthrogryposis Type 3 | – | 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 ReviewPatients 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- There are no patient enrollment restrictions based on gender, ethnicity, religion, socio-economic status, geographical location, or clinical setting.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| Modified Flanagan Quality of Life ScaleAlso: Quality of Life Scale, Quality of Life Instrument, Quality of Life MeasureCompleted by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness. | Other | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| 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 | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| Functional Enquiry (or Review of Systems) FormAlso: Health History, Systems Review, Medical HistoryCompleted during the interview; it is a checklist of medical problems. | Other | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) QuestionnaireThe STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes. | Other | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)Also: Quality of Life Assessment, quality of life instrument, quality of life measureCompleted 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 | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| Medical Records ReviewAlso: Treatment Records Review, Review of Patient Notes, Patient Chart Review, Review of Clinical DataReview of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes. | Other | Distal Arthrogryposis Type 1, Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
Primary outcome
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.
1 secondary outcome
Posttraumatic Stress and Depressive Symptoms
Time frame: at study enrolment and during a single study interview, which lasts 1-2 hours
Results and safety
The study was stopped early (reason given: Insufficient patient enrolment). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jun 2022.
- Background: PubMed 28264711Poling 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.
- Results publication: PubMed 26494722Chamberlain 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.
- Individual participant dataSharing planned: No. Individual patient data will not be shared, due to concerns involved in masking identities of individuals with such a rare condition.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Freeman-Sheldon Syndrome and Arthrogryposis Distal Type 2A, run by Freeman-Sheldon Research Group, Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 21 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Insufficient patient enrolment). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Physical Findings and Complications of Physical Findings (time frame: during a single study interview, which lasts 1-2 hours). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01144741, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Jun 2022.