Freeman-Burian SyndromeFINDFSSNCT05419245
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
An observational study of Freeman-Burian Syndrome and Freeman-Sheldon Syndrome, run by Dufresne, Craig, MD, PC at 1 site in United States.
Trial summary
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome
- What is being tested?
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview and Medical Records Review
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Jun 2022to Dec 2023
- 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 are able to provide informed consent or have a legally appointed representative who is able to provide informed consent
- Patients who have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3
- Persons who speak and read English, German, Russian, or Czech
Who cannot join
- Patients who are not able to provide informed consent or do not have a legally appointed representative who is able to provide informed consent
- Patients who do not have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3
- Persons who do not speak or read English, German, Russian, or Czech
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Office of Craig R Dufresne, MD, PC
Fairfax, Virginia, 22031
Craig R Dufresne, MD, 703-207-3065, info@duplastics.com
Mikaela I Poling, BA, 703-207-3065, research@duplastics.com
About this study
Official title: Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1.
The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview.
The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.
Read the detailed description
According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 and 1. Unfortunately, while these conditions are different from FBS, many think of them as being less severe versions of FBS. This is not true. FBS is a skull and face syndrome, while Sheldon-Hall syndrome and DA types 1 and 3 are syndromes of the arms, legs, hands, and feet that (except DA type 1) may have mild face deformities. It is important to understand this difference, FBS does not respond well to treatment. The other syndromes generally do respond well to treatment. To improve diagnosis and treatment, it is important to understand factors contributing to an accurate diagnosis and treatment outcome. To provide better evidence for these being very different syndromes, it also is important to compare the above areas of health between people with all of these syndromes. It is hoped the study will help improve treatment and identify areas for further research.
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1
- Being tested
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale
- Keywords
- craniofacial abnormalities, arthrogryposis, rehabilitation, surgery, therapy, health status, quality of life, patient reported outcome, health-related quality of life, depressive symptoms
- Medical subject headings
- Freeman-Sheldon syndrome, Distal arthrogryposis type 2B, Digitotalar Dysmorphism, Pseudohypoaldosteronism, Gordon syndrome, Craniofacial Abnormalities, Arthrogryposis, Depression
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Guided Health History for Freeman-Burian Syndrome QuestionnaireOther
Completed during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
Freeman-Burian syndrome Semi-Structured Quality of Life InterviewOther
Completed during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health.
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 Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.
PTSD Checklist for DSM-5Other
Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely". Lower scores suggest the person may be experiencing fewer symptoms.
Modified Flanagan Quality of Life ScaleOther
Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being "Terrible" and 7 being "Delighted". Higher scores suggest the person may be experiencing a better quality of life.
Center for Epidemiologic Studies Depression ScaleOther
Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being "Rarely or none of the time (less than 1 day)" and 3 being "Most or all of the time (5-7 days)". Lower scores suggest the person may be experiencing fewer symptoms.
Review of SystemsOther
Also called health history, medical history
Completed during the interview. A review of systems is a checklist of medical problems.
FACE-Q | Craniofacial - Appearance of the FaceOther
Completed by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being "Not at All" and 4 being "Very Much". Lower scores suggest the person may be less pleased with the appearance of their face.
FACE-Q | Craniofacial - Appearance DistressOther
Completed by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being "Always" and 4 being "Never". Lower scores suggest the person may be experiencing more distress related to the appearance of their face.
FACE-Q | Craniofacial - Facial FunctionOther
Completed by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being "I cannot do this" and 3 being "I can do this". Lower scores suggest the person may be experiencing more problems with facial muscle functioning.
| 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: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function | |
| 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: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function | |
| 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: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function | |
| 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: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function | |
| 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: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems | |
| 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 spine 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: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference in intervention-related outcome rates between groups
Outcomes for all interventions are rated as either acceptable, unacceptable, or potentially harmful/harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Measured: During a single study interview, which lasts 1-2 hours
Difference in diagnostic accuracy between groups
This is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.
Measured: During a single study interview, which lasts 1-2 hours
Secondary outcomes (6)
Difference in posttraumatic stress disorder symptoms between groups
Posttraumatic stress symptoms are assessed using the self-completed and validated PTSD Checklist for DSM-5, a 20-item questionnaire; each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely".
Measured: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in depressive symptoms between groups
Depressive symptoms are assessed using the self-completed and validated Center for Epidemiologic Studies Depression Scale.
Measured: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in quality-of-life between groups
Quality-of-life is scored using the self-completed Modified Flanagan Quality of Life Scale.
Measured: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial appearance satisfaction between groups
Facial appearance satisfaction is scored using the self-completed FACE-Q | Craniofacial - Appearance of the Face.
Measured: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial appearance distress between groups
Facial appearance distress is scored using the self-completed FACE-Q | Craniofacial - Appearance Distress.
Measured: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial muscle functioning symptoms between groups
Facial muscle functioning symptoms are scored using the self-completed FACE-Q | Craniofacial - Facial Function.
Measured: 1 week to 1 day before 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 posted15 Jun 2022
- Study start1 Jun 2022
- Primary completionDec 2023 (estimated)
- Study completionDec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (25)Papers the sponsor has linked to this study.
- Other trials for Freeman-Burian 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
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Dufresne, Craig, MD, PC
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Craig R Dufresne, MD, Principal investigator, Dr Craig R Dufresne, MD, PC
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05419245
- Sponsor's protocol ID
- U1111-1120-5851
- Acronym
- FINDFSS
- Status last verified
- Jul 2022
- First submitted
- 3 Jun 2022
- Last updated
- 19 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No individual participant data (IPD) will be made available to other researchers.
Publications
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. No abstract available.
PubMed 28034943Poling MI, Dufresne CR. Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. Cleft Palate Craniofac J. 2018 May;55(5):787-788. doi: 10.1177/1055665617753482. Epub 2018 Jan 25.
PubMed 29370530Poling MI, Dufresne CR. Revisiting the Many Names of Freeman-Sheldon Syndrome. J Craniofac Surg. 2018 Nov;29(8):2176-2178. doi: 10.1097/SCS.0000000000004802.
PubMed 30400128Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2.
PubMed 30630514Poling MI, Dufresne CR. Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data. Syst Rev. 2019 May 27;8(1):127. doi: 10.1186/s13643-019-1045-1.
PubMed 31133050Poling MI, Dufresne CR. Freeman-Burian syndrome. Anasthesiologie und Intensivmedizin. 2019; 60(1): S8-S17. doi: 10.19224/ai2019.S008
Poling MI, Dufresne CR, Portillo AL. Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment. J Craniofac Surg. 2019 Nov-Dec;30(8):2502-2508. doi: 10.1097/SCS.0000000000005968.
PubMed 31567769Poling MI, Dufresne CR. Distal arthrogryposis type 3. Anasthesiologie und Intensivmedizin. 2019; 60(13): S536-S543. doi: 10.19224/ai2019.s536.
Poling MI, Dufresne CR. Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment. J Craniofac Surg. 2020 May/Jun;31(3):787-790. doi: 10.1097/SCS.0000000000006155.
PubMed 31985597Poling MI, Dufresne CR, Chamberlain RL. Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. J Craniofac Surg. 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299.
PubMed 32149971Poling MI, Dufresne CR, McCormick RJ. Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment. J Pediatr Genet. 2020 Sep;9(3):158-163. doi: 10.1055/s-0040-1710339. Epub 2020 May 7.
PubMed 32714615Poling MI, Dufresne CR. Letter. AANA Journal. 2020; 88(5): 54.
Poling MI, Dufresne CR. Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). Ann Rehabil Med. 2020 Oct;44(5):409-410. doi: 10.5535/arm.20110. Epub 2020 Oct 29. No abstract available.
PubMed 33152847Poling MI, Dufresne CR. Accuracy of facts about Freeman-Sheldon syndrome. Clinical and Experimental Obstetrics and Gynecolology. 2021; 48(5): 997-998. doi: 10.31083/j.ceog4805160
Poling MI, Dufresne CR. Diagnosis, evaluation, and treatment in Freeman-Burian syndrome: clinical practice guideline for a rare and complex craniofacial syndrome. Craniomaxillofacial Abstracts Presented at 78th Annual Meeting of the American Cleft Palate Craniofacial Meeting. FACE. 2021; 2(4): NP3. doi: 10.1177/27325016211049488
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study
- ClinicalTrials.gov ID
- NCT05419245
- Acronym / sponsor ID
- FINDFSS / U1111-1120-5851
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1
- Keywords
- craniofacial abnormalities, arthrogryposis, rehabilitation, surgery, therapy, health status, quality of life, patient reported outcome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Dufresne, Craig, MD, PCUniversity, hospital or other
- Study start
- 1 Jun 2022 (actual)
- Primary completion
- Dec 2023 (estimated)
- Study completion
- Dec 2023 (estimated)
- First posted
- 15 Jun 2022 (actual)
- 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.
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1.
The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview.
The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.
Detailed description
According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 and 1. Unfortunately, while these conditions are different from FBS, many think of them as being less severe versions of FBS. This is not true. FBS is a skull and face syndrome, while Sheldon-Hall syndrome and DA types 1 and 3 are syndromes of the arms, legs, hands, and feet that (except DA type 1) may have mild face deformities. It is important to understand this difference, FBS does not respond well to treatment. The other syndromes generally do respond well to treatment. To improve diagnosis and treatment, it is important to understand factors contributing to an accurate diagnosis and treatment outcome. To provide better evidence for these being very different syndromes, it also is important to compare the above areas of health between people with all of these syndromes. It is hoped the study will help improve treatment and identify areas for further research.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Freeman-Sheldon syndrome Classic Type | – | Other: Guided Health History for Freeman-Burian Syndrome Questionnaire, Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Other: Medical Records Review, Other: PTSD Checklist for DSM-5, Other: Modified Flanagan Quality of Life Scale, Other: Center for Epidemiologic Studies Depression Scale, Other: Review of Systems, Other: FACE-Q | Craniofacial - Appearance of the Face, Other: FACE-Q | Craniofacial - Appearance Distress, Other: FACE-Q | Craniofacial - Facial FunctionPatients 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: Guided Health History for Freeman-Burian Syndrome Questionnaire, Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Other: Medical Records Review, Other: PTSD Checklist for DSM-5, Other: Modified Flanagan Quality of Life Scale, Other: Center for Epidemiologic Studies Depression Scale, Other: Review of Systems, Other: FACE-Q | Craniofacial - Appearance of the Face, Other: FACE-Q | Craniofacial - Appearance Distress, Other: FACE-Q | Craniofacial - Facial FunctionPatients 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: Guided Health History for Freeman-Burian Syndrome Questionnaire, Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Other: Medical Records Review, Other: PTSD Checklist for DSM-5, Other: Modified Flanagan Quality of Life Scale, Other: Center for Epidemiologic Studies Depression Scale, Other: Review of Systems, Other: FACE-Q | Craniofacial - Appearance of the Face, Other: FACE-Q | Craniofacial - Appearance Distress, Other: FACE-Q | Craniofacial - Facial FunctionPatients 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: Guided Health History for Freeman-Burian Syndrome Questionnaire, Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Other: Medical Records Review, Other: PTSD Checklist for DSM-5, Other: Modified Flanagan Quality of Life Scale, Other: Center for Epidemiologic Studies Depression Scale, Other: Review of Systems, Other: FACE-Q | Craniofacial - Appearance of the Face, Other: FACE-Q | Craniofacial - Appearance Distress, Other: FACE-Q | Craniofacial - Facial FunctionPatients 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: Medical Records Review, Other: PTSD Checklist for DSM-5, Other: Modified Flanagan Quality of Life Scale, Other: Center for Epidemiologic Studies Depression Scale, Other: Review of SystemsPatients 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: Medical Records Review, Other: PTSD Checklist for DSM-5, Other: Modified Flanagan Quality of Life Scale, Other: Center for Epidemiologic Studies Depression Scale, Other: Review of Systems, Other: FACE-Q | Craniofacial - Appearance of the Face, Other: FACE-Q | Craniofacial - Appearance Distress, Other: FACE-Q | Craniofacial - Facial FunctionPatients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and spine 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 are able to provide informed consent or have a legally appointed representative who is able to provide informed consent
- Patients who have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3
- Persons who speak and read English, German, Russian, or Czech
Key exclusion criteria (3 listed)
- Patients who are not able to provide informed consent or do not have a legally appointed representative who is able to provide informed consent
- Patients who do not have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3
- Persons who do not speak or read English, German, Russian, or Czech
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 |
|---|---|---|
| Guided Health History for Freeman-Burian Syndrome QuestionnaireCompleted during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes. | Other | Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| Freeman-Burian syndrome Semi-Structured Quality of Life InterviewCompleted during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health. | Other | 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 Guided Health History for Freeman-Burian Syndrome Questionnaire 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 |
| PTSD Checklist for DSM-5Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely". Lower scores suggest the person may be experiencing fewer symptoms. | 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 ScaleCompleted by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being "Terrible" and 7 being "Delighted". Higher scores suggest the person may be experiencing a better quality of life. | 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 ScaleCompleted by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being "Rarely or none of the time (less than 1 day)" and 3 being "Most or all of the time (5-7 days)". Lower scores suggest the person may be experiencing fewer symptoms. | 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 |
| Review of SystemsAlso: health history, medical historyCompleted during the interview. A review of systems 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 |
| FACE-Q | Craniofacial - Appearance of the FaceCompleted by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being "Not at All" and 4 being "Very Much". Lower scores suggest the person may be less pleased with the appearance of their face. | Other | Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| FACE-Q | Craniofacial - Appearance DistressCompleted by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being "Always" and 4 being "Never". Lower scores suggest the person may be experiencing more distress related to the appearance of their face. | Other | Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
| FACE-Q | Craniofacial - Facial FunctionCompleted by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being "I cannot do this" and 3 being "I can do this". Lower scores suggest the person may be experiencing more problems with facial muscle functioning. | Other | Distal Arthrogryposis Type 3, Freeman-Sheldon syndrome Classic Type, Freeman-Sheldon syndrome Craniofacial Type, Freeman-Sheldon syndrome Mixed Type, Sheldon-Hall syndrome |
Primary outcome
Difference in intervention-related outcome rates between groups
Time frame: During a single study interview, which lasts 1-2 hours
Outcomes for all interventions are rated as either acceptable, unacceptable, or potentially harmful/harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.
Difference in diagnostic accuracy between groups
Time frame: During a single study interview, which lasts 1-2 hours
This is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.
6 secondary outcomes
Difference in posttraumatic stress disorder symptoms between groups
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in depressive symptoms between groups
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in quality-of-life between groups
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial appearance satisfaction between groups
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial appearance distress between groups
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Difference in facial muscle functioning symptoms between groups
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2022.
- Background: PubMed 28034943Poling 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.
- Background: PubMed 29370530Poling MI, Dufresne CR. Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. Cleft Palate Craniofac J. 2018 May;55(5):787-788. doi: 10.1177/1055665617753482. Epub 2018 Jan 25.
- Background: PubMed 30400128Poling MI, Dufresne CR. Revisiting the Many Names of Freeman-Sheldon Syndrome. J Craniofac Surg. 2018 Nov;29(8):2176-2178. doi: 10.1097/SCS.0000000000004802.
- Background: PubMed 30630514Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2.
- Background: PubMed 31133050Poling MI, Dufresne CR. Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data. Syst Rev. 2019 May 27;8(1):127. doi: 10.1186/s13643-019-1045-1.
- BackgroundPoling MI, Dufresne CR. Freeman-Burian syndrome. Anasthesiologie und Intensivmedizin. 2019; 60(1): S8-S17. doi: 10.19224/ai2019.S008
- Background: PubMed 31567769Poling MI, Dufresne CR, Portillo AL. Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment. J Craniofac Surg. 2019 Nov-Dec;30(8):2502-2508. doi: 10.1097/SCS.0000000000005968.
- BackgroundPoling MI, Dufresne CR. Distal arthrogryposis type 3. Anasthesiologie und Intensivmedizin. 2019; 60(13): S536-S543. doi: 10.19224/ai2019.s536.
- Background: PubMed 31985597Poling MI, Dufresne CR. Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment. J Craniofac Surg. 2020 May/Jun;31(3):787-790. doi: 10.1097/SCS.0000000000006155.
- Background: PubMed 32149971Poling MI, Dufresne CR, Chamberlain RL. Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. J Craniofac Surg. 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299.
- Background: PubMed 32714615Poling MI, Dufresne CR, McCormick RJ. Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment. J Pediatr Genet. 2020 Sep;9(3):158-163. doi: 10.1055/s-0040-1710339. Epub 2020 May 7.
- BackgroundPoling MI, Dufresne CR. Letter. AANA Journal. 2020; 88(5): 54.
- Principal Investigator's (Dr Craig R Dufresne) Research and Press Relations main webpage. Last Accessed: 7 Jun 2022Link provided by the sponsor.
- "Freeman-Sheldon Syndrome" from the National Organization for Rare Disorders. Last Accessed: 10 Sept 2021Link provided by the sponsor.
- Video about Freeman-Burian syndrome (previously known as Freeman-Sheldon syndrome) hosted by Genetic Alliance and presented by the Principal Investigator and Sub-Investigator (Craig R Dufresne and MI Poling). Last Accessed: 7 Jun 2022Link provided by the sponsor.
- Individual participant dataSharing planned: No. No individual participant data (IPD) will be made available to other researchers.
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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.
Craig R Dufresne, MD principal investigator
Dr Craig R Dufresne, MD, PC
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-Burian Syndrome and Freeman-Sheldon Syndrome, run by Dufresne, Craig, MD, PC 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: status not confirmed, as of the sponsor's last update on 19 Jul 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Mikaela I Poling, BA (3044609038, research@duplastics.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference in intervention-related outcome rates between groups (time frame: During a single study interview, which lasts 1-2 hours). The study lists 2 primary outcomes in all. 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 NCT05419245, which also lists 25 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 19 Jul 2022.