Development of a Patient-reported Outcome Measure for Chiari Malformation and Syringomyelia (BCS-score)

Assistance Publique - Hôpitaux de Paris

Status: Not yet enrolling

Conditions: Syringomyelia; Chiari Malformation

Treatments: Other: focus groups; Other: questionnaire

Study type: Observational

Funder types: Other

Identifiers

NCT06011226

2022-A01816-37 (Other Identifier)

APHP220733

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 60 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

60 participants in 3 patient groups

Phase 1: development of the questionnaire

Description:

development of the patient reported outcome: The strategy consists of four phases: 1. structured litterature review 2. Group of experts: identification of the main areas to be covered by the questionnaire in order to draw up the focus group moderation guide 3. 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.

Treatment:

Other: focus groups

Phase 2: pilot phase

Description:

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.

Treatment:

Other: questionnaire

Phase 3: national testing of the questionnaire

Description:

the 3rd phase will be submitted to the Human Subjects Protection Review Board according to the progression of the first two phases.

Treatment:

Other: questionnaire