Development of a Patient-reported Outcome Measure for Chiari Malformation and Syringomyelia

Study Overview
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Brief Summary
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Chiari malformation corresponds to the herniation of cerebellar tonsils into the foramen magnum resulting in obstruction of cerebrospinal fluid circulation, which may eventually lead to the formation of an intramedullary cavity called syringomyelia. Chiari and syringomyelia can be responsible of variable symptoms, based on which neurosurgeons might propose surgical treatment. Yet, there is no properly developped and validated patient reported outcome measure (PROM) to assess the clinical severity of Chiari malformation and/or syringomyelia. The lack of such evaluation tool is a major issue to determine the optimal therapeutic strategy and to achieve a standardized and reproducible follow-up.

Detailed Description
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Chiari malformation corresponds to the herniation of cerebellar tonsils into the foramen magnum resulting in obstruction of cerebrospinal fluid circulation, which may eventually lead to the formation of an intramedullary cavity called syringomyelia. Chiari and syringomyelia can be responsible of variable symptoms, based on which neurosurgeons might propose surgical treatment. Yet, there is no properly developped and validated patient reported outcome measure (PROM) to assess the clinical severity of Chiari malformation and/or syringomyelia. The lack of such evaluation tool is a major issue to determine the optimal therapeutic strategy and to achieve a standardized and reproducible follow-up. The project will consist of two successive phases: a survey design of the questionnaire with small selected groups of patients; a monocentric pilot study on a limited population; The purpose of the development study is to produce a first version of the PROM based on proposed items written by experts and tested with volunteer patients (n = 10-20) within the framework of  focus groups followed by cognitive debriefings. These items will explore various dimensions of the functional impact of Chiari malformation and syringomyelia (pain, motor disability, sphincter disorders, quality of life, etc.). The pilot study will test this 1st version of the questionnaire on a limited population of patients (n = 40) within the CRMR C-MAVEM of Bicêtre hospital to produce a final version. This work will be supplemented subsequently by a multicenter study allowing to validate a simple and reproducible evaluation tool in order to ensure the follow-up of patients with a Chiari malformation and/or syringomyelia and to measure surgical outcome.

Official Title
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Development of a Patient-reported Outcome Measure for Chiari Malformation and Syringomyelia

Conditions
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Syringomyelia, Chiari Malformation

Intervention / Treatment
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* Other: focus groups
* Other: questionnaire


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Criteria common to all subjects included in the study Age > 18 years Subject understanding French Patients included in Phase I Subject with signed informed consent Patients included in phase II Patient not opposed to study participation Patients Chiari only group: Isolated descent of cerebellar tonsils > 5 mm below McRae's line (no associated syringomyelia) Patients syringomyelia only group: Presence of an intramedullary fluid cavity secondary to circulatory disturbance of cerebrospinal fluid of non foraminal origin (no Chiari) Patients Chiari with Syringomyelia group: Presence of Chiari malformation (tonsils > 5 mm below McRae's line) AND foraminal syringomyelia. Exclusion Criteria: Insufficient command of French Minor or protected adult (guardianship, curatorship, safeguard of justice) Diagnosis of Chiari and/or syringomyelia not proven by an MRI scan Pregnant or breast-feeding

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Phase 1: development of the questionnaire<br>development of the patient reported outcome: The strategy consists of four phases: structured litterature review Group of experts: identification of the main areas to be covered by the questionnaire in order to draw up the focus group moderation guide focus groups: A discussion session will explore patient symptomatology, the functional impact of the disease, quality of life and the problems faced by patients from their point of view. | Other: focus groups<br>* A dozen patients with Chiari malformation and syringomyelia (n = 4) or isolated Chiari malformation (n = 4) or isolated syringomyelia (n = 4) will be brought together in at least two focus groups. Each focus group will include 5 to 8 patients and will last approximately 1 to 2 hours. The focus groups will be recorded (audio only, no personal data will be collected during these sessions) and will be conducted in the presence of a neurosurgeon and a psychologist, who will moderate the session.<br>|
| Phase 2: pilot phase<br>Once the initial version of the self-questionnaire has been developed, it will be tested on a group of 40 patients with either Chiari malformation with syringomyelia (n = 20), isolated Chiari malformation (n = 10) or isolated syringomyelia (n = 10), managed by the CRMR C-MAVEM at Bicêtre Hospital. | Other: questionnaire<br>* developed questionnaire will be proposed to the patients in phase 2 and 3<br>|
| Phase 3: national testing of the questionnaire<br>the 3rd phase will be submitted to the Human Subjects Protection Review Board according to the progression of the first two phases. | Other: questionnaire<br>* developed questionnaire will be proposed to the patients in phase 2 and 3<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| development of metrologic and psychometric features of a patient-reported outcome measure (Bicêtre Chiari and Syringomyelia score - BCS score) | Development of metrologic and psychometric features of a patient-reported outcome measure (Bicêtre Chiari and Syringomyelia score - BCS score) for evaluating functional severity of Chiari malformation and/or syringomyelia | throughout the study (an average of 26 months) | 
| validation of metrologic and psychometric features of a patient-reported outcome | validation of metrologic and psychometric features of a patient-reported outcome measure (Bicêtre Chiari and Syringomyelia score - BCS score) for evaluating functional severity of Chiari malformation and/or syringomyelia | throughout the study (an average of 26 months) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Syringomyelia, Chiari Malformation, patient-reported outcome measure