Evaluation of Cognitive Functions in 20 Patients With Type 1 Myotonic Dystrophy With Virtual Reality Approach (GoodDiagNMD)

Feasibility of a Virtual Reality Approach in the Assessment of Executive Functions in Patients With Type 1 Myotonic Dystrophy : Pilot Study

Type 1 myotonic dystrophy (MD1) is a genetic and hereditary disease that primarily affects muscle tissue, resulting in myotonia (difficulty relaxing after contraction) and atrophy (progressive muscle weakening with decreased muscle volume). It also affects eyes, heart, endocrine system, gastrointestinal system and central nervous system. Specific cognitive abilities are impaired in patients with MD1 such as attention, visio-spatial or visio-building abilities as well as executive dysfunctions.

Currently, the cognitive assessment of MD1 patients is based on classical neuropsychological tests, which are time-consuming and require a MD1 expert neuropsychologist. Moreover, it is usually very difficult for MD1 patients to accept performing these tests, and when they agree to perform them, they usually give up before the end. This finding is more frequent in MD1 patients with high level of cognitive impairment.

In order to overcome these difficulties in assessing cognitive functions of MD1 patients, the investigators decided to use innovative tools such as virtual reality, which allow individuals to experience a sensory-motor and cognitive experience in a digitally world through a helmet, glasses and joysticks.

The start-up My Cyber Royaume from Lille, in collaboration with the reference center of neuromuscular diseases from Nice coordinated by Pr Sacconi, have developed a software "Good Diag NMD" which uses virtual reality to assess cognitive disorders, more specifically executive functions in patients with type 1 myotonic dystrophy.

Study Overview

• Status: Withdrawn
• Conditions: Myotonic Dystrophy 1
• Intervention / Treatment: Diagnostic test: Type 1 myotonic dystrophy

• Study Type: Interventional
• Phase: Not Applicable

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• male or female age ≥ 18
• suffering with type 1 myotonic dystrophy confirmed by molecular biology
• suffering with dysexecutive impairments, with a pathologic BREF score ≤ 15
• affiliated to social security
• able to understand the inform consent form

Exclusion Criteria:

• suffering with visual or auditive impairments preventing them doing tests
• suffering with other pathologies preventing them doing tests
• suffering with motor impairments preventing them holding joysticks or carrying helmet
• protection by law under guardianship, or who cannot participate in a clinical study under Article L. 1121-16 of the French Code of Public Health
• patient under treatment that may affect cognitive functions (ie : Modafinil)
• participation in the last 3 months in a clinical research study in which he / she has been exposed to a pharmaceutical product or a medical device
• pregnant or breastfeeding female patient

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Type 1 myotonic dystrophy; Type 1 myotonic dystrophy patients doing classical neuropsychological test and on "Good Diag NMD" software	Diagnostic test: Type 1 myotonic dystrophy; To compare classical neuropsychological test and on "Good Diag NMD" software in Type 1 myotonic dystrophy patients

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate the feasibility of the use "Good Diag NMD" software in the evaluation of cognitive executive dysfunctions in patients with dystrophy myotonia 1	The feasibility "Good Diag NMD" software in patient with type 1 myotonic dystrophy (DM1) will be determined as the rate of patients having completed the Good Diag NMD session in full. Satisfactory feasibility is considered if this rate of patients is greater or equal to 50%.	0 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establish a possible relationship between the genotype of DM1 patients and the scores obtained during "Good Diag NMD" session	Genotype of DM1 patients will be determined by molecular biology technique, ie the size of GTC triplet expansion will indicate the of severity of the genetic abnormality . Then, we will analyse a possible correlation of the genotype with the scores obtained during "Good Diag NMD" session.	0 months
To compare the satisfaction score of type 1 myotonic dystrophy patients between classic neuropsychological tests and the Good Diag NMD session	The satisfaction will be measured with a satisfaction questionnaire called "Assessment questionnaire" (value between 0 to 50)	0 months
Compare the scores of "Good Diag NMD" session (scores of perseveration, inhibition and flexibility) with the scores of the classical neuropsychological tests	The following correlations will be examined studied: The level of correlation between perseveration score (0-149) and Frontal Efficiency Rapid Battery (BREF) score (0-18); The perseveration score (0-149) and Short Cognitive Battery (B2C) score; The inhibition score (0-77) and interference score (score I) from Stroop test (-30 and +30); flexibility score (0-119) and completion time of Trail Making Test (TMT) B	0 months
Establish a possible correlation between the severity of the disease, the severity of muscular impairment and the scores of Good Diag NMD session		0 months

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice
• Investigators: Principal Investigator: Sabrina SACCONI, Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Estimated): November 1, 2023
• Primary Completion (Estimated): November 1, 2024
• Study Completion (Estimated): November 1, 2024

Study Registration Dates

• First Submitted: January 14, 2022
• First Submitted That Met QC Criteria: February 19, 2024
• First Posted (Estimated): February 21, 2024

Study Record Updates

• Last Update Posted (Estimated): February 21, 2024
• Last Update Submitted That Met QC Criteria: February 19, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Muscular Disorders, Atrophic; Heredodegenerative Disorders, Nervous System; Muscular Dystrophies; Myotonic Disorders; Myotonic Dystrophy
• Other Study ID Numbers: 20-AOIP-04

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No