Clinical trial NCT05123339: Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease
Official title: Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease: Cross-sectional Case-control Study.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Marfan Syndrome
Keywords: Marfan's disease
Dural ectasia
Clinical signs
Intracranial hypotension
Low back pain
Activity limitation
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-11-17
Enrollment: 90
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients screened and selected at the CNMR at Bichat Hospital will receive a letter containing the information note and a self-questionnaire to complete.

Patients can reach Dr Troussier by phone or email to ask any questions. Patients will return a copy of the completed briefing note and self-questionnaire by post.

In the event of the presence of dural sac ectasia, patients will also be asked to send in the reply letter a copy of an imaging report, MRI or lumbar CT or TAP, or failing that an account- medical report mentioning this presence.

Brief 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)

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Frequency of spinal symptoms
timeFrame: Inclusion
Secondary outcomes:
measure: Self-administered digital scale (0 = no pain and 100 = maximum pain)
timeFrame: Inclusion
measure: Self-administered digital scale (0 = no pain and 100 = maximum pain)
timeFrame: Inclusion
measure: Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
timeFrame: Inclusion
measure: 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
timeFrame: Inclusion
measure: 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
timeFrame: Inclusion
Other outcomes:
Locations:
city: Paris
country: France
facility: CNMR Bichat
state: IDF
Study officials:
affiliation: Rehabilitation Service of the Musculoskeletal System and Spine Pathologies - Cochin Hospital - Paris
name: Christelle NGUYEN, Dr
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
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.
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.
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.