Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease

Marfan Syndrome Clinical Trial

— MARFANLOMB  

Official title:

Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease: Cross-sectional Case-control Study.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05123339
• Other study ID #: APHP211106
• Secondary ID: 2021-A00654-37
• Status: Completed
• Start date: February 11, 2022
• Est. completion date: September 12, 2022

Study information

• Verified date: December 2022
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls).

1. / Frequency of orthostatic headaches

2. / Frequency of low back pain due to orthostasis

3. / Frequency of low back pain during Vasalva maneuvers

4. / Frequency of lumbar claudication

5. / Frequency of root claudication

Secondary outcomes are to compare activity limitations, quality of life and intensity of low back and radicular pain between Marfan patients with dural sac ectasia (cases) and those without (controls).

1. / Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)

2. / Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)

3. / Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)

4. / Physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )

5. / Mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)

Description:

Marfan's disease is a rare condition. Clinical phenotypes are heterogeneous. Among the abnormalities of the spine, dural ectasia is common with a prevalence of 66%. This is a major sign of Ghent's diagnostic criteria. To our knowledge, the clinical and functional signs associated with dural sac ectasia have never been described with precision. Only a few uncontrolled case series have been published. This is the case of the study by Foran and colleagues published in the American Journal of Genetics in 2005 which included 22 patients with Marfan disease with dural ectasia questioned about their symptoms and quality of life. We hypothesize the existence of a clinical and functional spinal phenotype specific to dural ectasia in patients with Marfan disease.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 90
• Est. completion date: September 12, 2022
• Est. primary completion date: September 12, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 55 Years

Eligibility

Inclusion Criteria:

• Marfan disease according to the Ghent criteria revised in 2010

• Patients followed at the CNMR in Bichat

• Adults =18 years old and = 55 years old (to limit the incidence of degenerative lumbar pathologies)

• Patient not opposing the research

• Mastery of the French language

Exclusion Criteria:

• History of lumbar surgery <1 year

• Specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)

• Inability to write, read or speak French

• Cognitive or behavioral problems making assessment impossible

• Patients receiving AME

• Patients under tutorship or curatorship

Related Conditions & MeSH terms

• Marfan Syndrome

Intervention

Other:
• Questionnaire
Questionnaire

Locations

Country	Name	City	State
France	CNMR Bichat	Paris	IDF

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (4)

Boker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R. Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 2019 Aug;19(8):1412-1421. doi: 10.1016/j.spinee.2019.04.010. Epub 2019 Apr 15. — View Citation

Chuzel Q, Dupuis-Girod S, Rousset M, Decharry C, Decullier E, Pialat JB. Assessment of Dural Ectasia Using Computed Tomodensitometry as a Criterion in Marfan Syndrome. J Comput Assist Tomogr. 2019 Mar/Apr;43(2):282-287. doi: 10.1097/RCT.0000000000000822. — View Citation

Foran JR, Pyeritz RE, Dietz HC, Sponseller PD. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet A. 2005 Apr 1;134A(1):58-65. doi: 10.1002/ajmg.a.30525. — View Citation

Nguyen C, Papelard A, Schnitzler A, Mangione P, Poiraudeau S, Rannou F. Congenital lumbar spinal stenosis associated with Marfan syndrome. Joint Bone Spine. 2012 Mar;79(2):199-200. doi: 10.1016/j.jbspin.2011.07.007. Epub 2011 Oct 1. No abstract available. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Frequency of spinal symptoms	Frequency of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls) : / Frequency of orthostatic headaches; / Frequency of low back pain due to orthostasis; / Frequency of low back pain during Vasalva maneuvers; / Frequency of lumbar claudication; / Frequency of root claudication	Inclusion
Secondary	Self-administered digital scale (0 = no pain and 100 = maximum pain)	Intensity of low back pain between Marfan patients with dural ectasia (cases) and those without (controls) : average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)	Inclusion
Secondary	Self-administered digital scale (0 = no pain and 100 = maximum pain)	Intensity of radicular pain between Marfan patients with dural ectasia (cases) and those without (controls) : average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)	Inclusion
Secondary	Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)	Limitations between Marfan patients with dural ectasia (cases) and those without (controls) : activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)	Inclusion
Secondary	12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )	Quality of life between Marfan patients with dural ectasia (cases) and those without (controls) : physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )	Inclusion
Secondary	12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )	Quality of life between Marfan patients with dural ectasia (cases) and those without (controls) : mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)	Inclusion