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

Sponsor
Assistance Publique - Hôpitaux de Paris (Other)
Overall Status
Recruiting
CT.gov ID
NCT05123339
Collaborator
(none)
318
1
7.6
41.7

Study Details

Study Description

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)

Condition or Disease Intervention/Treatment Phase
  • Other: Questionnaire

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.

Study Design

Study Type:
Observational
Anticipated Enrollment :
318 participants
Observational Model:
Case-Control
Time Perspective:
Cross-Sectional
Official Title:
Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease: Cross-sectional Case-control Study.
Actual Study Start Date :
Feb 11, 2022
Anticipated Primary Completion Date :
Oct 1, 2022
Anticipated Study Completion Date :
Oct 1, 2022

Arms and Interventions

Arm Intervention/Treatment
Case group

Marfan disease according to Ghent criteria revised in 2010 with dural ectasia Patients followed at the CNMR in Bichat Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) No history of lumbar surgery <1 year and without specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)

Other: Questionnaire
Questionnaire

Control group

Marfan disease according to Ghent criteria revised in 2010 without dural ectasia Patients followed at the CNMR in Bichat Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) No history of lumbar surgery <1 year and without specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)

Other: Questionnaire
Questionnaire

Outcome Measures

Primary Outcome Measures

  1. Frequency of spinal symptoms [Inclusion]

    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

Secondary Outcome Measures

  1. Self-administered digital scale (0 = no pain and 100 = maximum pain) [Inclusion]

    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)

  2. Self-administered digital scale (0 = no pain and 100 = maximum pain) [Inclusion]

    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)

  3. Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) [Inclusion]

    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)

  4. 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) [Inclusion]

    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 )

  5. 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable ) [Inclusion]

    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)

Eligibility Criteria

Criteria

Ages Eligible for Study:
18 Years to 55 Years
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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

Contacts and Locations

Locations

Site City State Country Postal Code
1 CNMR Bichat Paris IDF France 75018

Sponsors and Collaborators

  • Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Christelle NGUYEN, Dr, Rehabilitation Service of the Musculoskeletal System and Spine Pathologies - Cochin Hospital - Paris

Study Documents (Full-Text)

None provided.

More Information

Publications

Responsible Party:
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT05123339
Other Study ID Numbers:
  • APHP211106
  • 2021-A00654-37
First Posted:
Nov 17, 2021
Last Update Posted:
Jul 13, 2022
Last Verified:
Jul 1, 2022
Individual Participant Data (IPD) Sharing Statement:
No
Plan to Share IPD:
No
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Keywords provided by Assistance Publique - Hôpitaux de Paris
Additional relevant MeSH terms:

Study Results

No Results Posted as of Jul 13, 2022