Follow-up of NIV At Home in Patients with Duchenne Muscular Dystrophy

The aim of this study is to verify whether full video home polysomnography (sleep study) with nocturnal transcutaneous CO2 monitoring is feasible in the follow-up of non-invasive ventilation (NIV) in patients with Duchenne muscular dystrophy. The researchers would like to investigate whether they could perform sufficient measurements in the home situation and see if correct decision for further treatment could be made. Furthermore, the researchers will make an analysis on the minimal requirements of measurements to make a correct decision for the treatment of these patients.

Study Overview

• Status: Recruiting
• Conditions: Duchenne Muscular Dystrophy (DMD)
• Intervention / Treatment: Diagnostic test: Monitoring of NIV at home

• Study Type: Observational
• Enrollment (Estimated): 17

Contacts and Locations

• Study Contact: Name: Dries Testelmans, MD PHD; Phone Number: +3216342522; Email: dries.testelmans@uzleuven.be
• Study Contact Backup: Name: Bart Vrijsen, PT PHD; Phone Number: +3216342522; Email: bart.vrijsen@uzleuven.be

Study Locations

• Belgium
  • Vlaams-Brabant
    • Leuven, Vlaams-Brabant, Belgium, 3000
      • Recruiting
      • Universitaire Ziekenhuizen KU Leuven
      • Contact: Bart Vrijsen, PhD; Phone Number: 32 16 342522; Email: bart.vrijsen@uzleuven.be

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

Patients are in follow-up at the Leuven University City for Sleep/wake disorders

Description

Inclusion Criteria:

• Patients with DMD > 18 years using NIV
• Signing the written informed consent

Exclusion Criteria:

• /

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Adult patients with Duchenne using NIV in follow-up at the Leuven University Center for Sleep/wake; Patients with Duchenne Muscular Dystrophy (DMD) on non-invasive ventilation (NIV) who need a yearly follow up by polysomnopgraphy	Diagnostic test: Monitoring of NIV at home; Monitoring of NIV at home

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The feasibility of full video home polysomnography (PSG) and follow-up at home in patients with DMD on NIV, identical to the sophisticated PSG in-hospital	The primary endpoint is the feasibility of a home based full-video polysomnography for follow-up of DMD patients on NIV.	Yearly home polysomnopraphy and Transcutaneous CO2 measurement, for a period of 3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Analysis of the minimal equipment to assure a correct follow-up of NIV at home (full video PSG vs PtcCO2) measurement combined with ventilator software data vs ventilator software data vs PtcCO2 measurement)		3 years
Cost-benefit analysis of follow-up of NIV at home as a preparation to create a file for the Belgian health insurance (registration of time and material)	During 3 years, the costs for performing a home based full-video PSG (relocation costs, material, physiotherapist wage) will be weighed against the benifits (patient comfort, relieving hospital ward occupation)	Cost-benifit analysis will be carried out at study completion, after 3 years.
Amount of technical failures, i.e. PSG signals, PtcCO2 measurement, O2 saturation measurement and video monitoring.	Checklist after each PSG	Performed immediately after each PSG or PtcCO2 measurement, during a period of 3 years.
Patient Reported Outcomes: Experience between in-hospital PSG vs PSG at home	Both patient and caregiver report on a 10 point likert scale, ranging from totally not to very, how mor comfortable the PSG at home was compared to the hospital PSG.	The PROM will be completed by the patient at each yearly PSG, during the 3 years of the ongoing study
Sleep quality questionnaire: The Pittsburgh Sleep Quality Index (PSQI)	The Pittsburgh Sleep Quality Index (PSQI) is a widely used self-report questionnaire that assesses sleep quality over a one-month time interval. Each component score of the PSQI ranges from 0 to 3, with 3 indicating the greatest dysfunction or disturbance. The seven component scores are then summed to obtain a global PSQI score, which ranges from 0 to 21. Higher scores indicate poorer sleep quality, with a score greater than 5 suggesting significant sleep difficulties	The PSQI will be completed by the patient at each yearly PSG and at each yearly PtcCO2 measurment, during 3 years.
Home-NIV PROM: S3-NIV	The S3-NIV questionnaire is a short, valid and repeatable self-completed tool for the routine clinical assessment of patients undergoing home NIV. The S3-NIV questionnaire provides clinicians and patients with a simple and reliable tool to assess important domains (symptoms, sleep quality and NIV-related side effects) as a complement to physiological monitoring. The S3-NIV questionnaire has 11 items. Each item is scored using a 5-point Likert scale from "always true" to "never true". The total score and the two sub scores range from 0 to 10 points. Lower scores represent a higher, negative impact of the disease and NIV on the individual.	The S3-NIV questionnaire will be completed by the patient at each yearly PSG and at each yearly PTCO2 measurement, during 3 years.
Daytime sleepiness questionnaire: Epworth Sleepiness Scale (ESS)	The ESS is a self-administered questionnaire with 8 questions. Respondents are asked to rate, on a 4-point scale (0-3), their usual chances of dozing off or falling asleep while engaged in eight different activities.	The ESS questionnaire will be completed by the patient at each yearly PSG and each yearly PtcCO2 measurement, during 3 years.

Collaborators and Investigators

• Sponsor: Universitaire Ziekenhuizen KU Leuven

Publications and helpful links

General Publications

• Bruyneel M, Ninane V. Unattended home-based polysomnography for sleep disordered breathing: current concepts and perspectives. Sleep Med Rev. 2014 Aug;18(4):341-7. doi: 10.1016/j.smrv.2013.12.002. Epub 2013 Dec 12.
• Toussaint M, Chatwin M, Soudon P. Mechanical ventilation in Duchenne patients with chronic respiratory insufficiency: clinical implications of 20 years published experience. Chron Respir Dis. 2007;4(3):167-77. doi: 10.1177/1479972307080697.
• Bourke SC. Respiratory involvement in neuromuscular disease. Clin Med (Lond). 2014 Feb;14(1):72-5. doi: 10.7861/clinmedicine.14-1-72. No abstract available.

Study record dates

Study Major Dates

• Study Start (Actual): December 6, 2024
• Primary Completion (Estimated): October 31, 2027
• Study Completion (Estimated): December 31, 2027

Study Registration Dates

• First Submitted: December 4, 2024
• First Submitted That Met QC Criteria: January 8, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 8, 2025
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Keywords: Feasibility; Duchenne Muscular Dystrophy; Non-invasive ventilation; Transcutaneous capnography; Home unattended full-video polysomnography
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Duchenne
• Other Study ID Numbers: S68844

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
• product manufactured in and exported from the U.S.: No