Clinical trial NCT05419245: Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Official title: Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Freeman-Burian Syndrome
Freeman-Sheldon Syndrome
Whistling Face Syndrome
Sheldon-Hall Syndrome
Freeman-Sheldon Syndrome Variant
Arthrogryposis Distal Type 1
Arthrogryposis Distal Type 3
Gordon Syndrome
Keywords: craniofacial abnormalities
arthrogryposis
rehabilitation
surgery
therapy
health status
quality of life
patient reported outcome
health-related quality of life
depressive symptoms
Lead sponsor: Dufresne, Craig, MD, PC
Sponsor class: OTHER
First posted: 2022-06-15
Enrollment: 20
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
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.

Brief 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 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.

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* 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

Primary outcomes:
measure: Difference in intervention-related outcome rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in diagnostic accuracy between groups
timeFrame: During a single study interview, which lasts 1-2 hours
Secondary outcomes:
measure: Difference in posttraumatic stress disorder symptoms between groups
timeFrame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
measure: Difference in depressive symptoms between groups
timeFrame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
measure: Difference in quality-of-life between groups
timeFrame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
measure: Difference in facial appearance satisfaction between groups
timeFrame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
measure: Difference in facial appearance distress between groups
timeFrame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
measure: Difference in facial muscle functioning symptoms between groups
timeFrame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
Other outcomes:
measure: Difference in diagnostic accuracy between specialities between all sub-types of Freeman-Burian syndrome and the other diagnosis groups (Sheldon-Hall syndrome, distal arthrogryposis type 3, and distal arthrogryposis type 1)
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in head and face (craniofacial) surgery-related outcome rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in spine surgery-related outcome rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in foot and ankle surgery-related outcome rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in hand and wrist surgery-related outcome rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in other bone and joint surgery-related outcome rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in general anesthesia-related complication rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in respiratory-related complication rates between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in rates of difficulty eating (chewing and swallowing) between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Difference in rates of difficulty walking between groups
timeFrame: During a single study interview, which lasts 1-2 hours
measure: Qualitative difference in quality of life between groups
timeFrame: During a single study interview, which lasts 1-2 hours
Locations:
city: Fairfax
country: United States
facility: Office of Craig R Dufresne, MD, PC
state: Virginia
Study officials:
affiliation: Dr Craig R Dufresne, MD, PC
name: Craig R Dufresne, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Poling MI, Dufresne CR, Chamberlain RL. Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis. Br J Gen Pract. 2017 Jan;67(654):32-33. doi: 10.3399/bjgp17X688705. No abstract available.
citation: Poling 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.
citation: Poling 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.
citation: Poling 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.
citation: Poling 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.
citation: Poling MI, Dufresne CR. Freeman-Burian syndrome. Anasthesiologie und Intensivmedizin. 2019; 60(1): S8-S17. doi: 10.19224/ai2019.S008
citation: 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.
citation: Poling MI, Dufresne CR. Distal arthrogryposis type 3. Anasthesiologie und Intensivmedizin. 2019; 60(13): S536-S543. doi: 10.19224/ai2019.s536.
citation: 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.
citation: Poling 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.
citation: Poling 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.
citation: Poling MI, Dufresne CR. Letter. AANA Journal. 2020; 88(5): 54.
citation: 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.
citation: Poling 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
citation: 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
citation: Poling MI, Dufresne CR. Clarity on Diagnosis in Freeman-Burian syndrome. Turkiye Klinikleri Journal of Case Reports. doi: 10.5336/caserep.2022-88270 [In Press] Available online: 17 February 2022. Available at: https://www.turkiyeklinikleri.com/inpress_article/en-clarity-on-diagnosis-in-freeman-burian-syndrome-97915.html
citation: Poling MI, Dufresne CR. Oculoplastic surgery, diagnosis, and other matters in Freeman-Burian syndrome. Ophthalmic Genet. 2022 Jun;43(3):431-432. doi: 10.1080/13816810.2022.2068043. Epub 2022 Apr 28. No abstract available.
citation: Poling MI, Dufresne CR. Anaesthesia recommendations for Sheldon-Hall syndrome. OrphanAnesthesia. 20 Feb 2019. Available at: https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/cat_view/61-rare-diseases/60-published-guidelines/237-sheldon-hall-syndrome.html
citation: Poling MI, Dufresne CR. Obstetrics and Diagnosis in Freeman-Burian syndrome. Version: 1. Authorea [preprint]. January 31, 2022. doi: 10.22541/au.164366820.09260728/v1.
citation: Poling MI, Dufresne CR. Misinformation and Misdiagnosis in Freeman-Burian syndrome. Version: 1. Authorea [preprint]. January 31, 2022. doi: 10.22541/au.164366815.52860865/v1.
citation: Poling MI, Dufresne CR. Limb Deformity Treatment and Diagnosis in Freeman-Burian syndrome. Version: 1. Authorea [preprint]. January 31, 2022. doi: 10.22541/au.164366820.05370920/v1.
citation: Poling MI, Dufresne CR. Unsafe Care and Misunderstanding Diagnosis in Freeman-Burian syndrome: Problems in Writing Case Reports Involving Rare Conditions and Strategies for Improvement. Authorea. January 24, 2022. doi: 10.22541/au.164303994.43963430/v1.
citation: Poling MI, Morales Corado JA, Chamberlain RL. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev. 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4.
citation: Poling MI, Dufresne CR. Re: "Periocular Anomalies in Freeman-Sheldon Syndrome". Ophthalmic Plast Reconstr Surg. 2022 Nov-Dec 01;38(6):609-610. doi: 10.1097/IOP.0000000000002307. Epub 2021 Nov 4. No abstract available.