Unravelling the neural network of breathing in myotonic dystrophy: an exploratory study

Unravelling the neural network of breathing in myotonic dystrophy: an exploratory study - BreathNet

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON50033

Enrollment

Registered

2021-01-06

Start date

2021-07-14

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

muscle dystrophy mytonic dystrophy type I

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: • Healthy subjects: competent adult volunteers • Patients: genetically-confirmed adult patients with myotonic dystrophy • Normal or corrected-to-normal vision • Normal uncorrected hearing • Willingness and ability to understand nature and content of the study • Ability to participate and comply with study requirements

Exclusion criteria

Exclusion criteria: • History of or current psychiatric treatment • History of or current brain surgery or epilepsy • Pregnancy • MRI incompatibility (metal parts in upper body, implants, medical devices or medicinal plasters) • TMS incompatibility (metal parts in head, skin allergies) • Claustrophobia

Design outcomes

Primary

Measure	Time frame
Breathing-task related cerebral activity as a function of breathing condition (rest, paced and loaded) and disease (with or without myotonic dystrophy).	—

Secondary

Measure	Time frame
Other MRI measures - T1 structural scan- focal/general (ROI) atrophy with voxel-based measuring of cerebral cortex volume - T2 structural scan- focal/general (ROI) atrophy with voxel-based measuring of cerebral cortex volume - Resting state functional connectivity (seed regions, derived from breathing related fMRI) Physiological measurements inside MRI - Breathing rate, and depth is recorded using an pneumotachograph that records airway flow. - Oxygen and carbon dioxide content in expired air is measured using a gas sampling module. - Electrodermal activity (EDA): EDA is a measure of sympathetic autonomic nervous system activation and is measured using Ag/AgCI electrodes placed on the palmar surface of the hand or distal phalanges. - Heart rate (HR): HR is measured using electrocardiography (ECG) using 3 lead electrodes attached to the skin surface, or using a pulse oximeter (photoplethysmograph) affixed to a finger. - Tracking of eye gaze and pupil diameter: eye tracking is used to inform analyses about the participant's gaze position and saccade latencies. Pupil diameter is used as a measure of sympathetic arousal. - Surface electromyography (EMG): EMG is measured using Ag/AgCI electrodes place on the skin over muscles of interest (diaphragm and intercostal muscles). Physiological measurements outside MRI - Pulmonary function testing: forced vital capacity, force expiratory volume in 1 second, maximal inspiratory pressure and maximal expiratory pressure will be determined using a hand-held device. - Hypercapnic ventilatory response curve (HCVR): HCVR will be determined using the CO2-rebreathing technique. - Respiratory related evoked potential (RREP): RREP is a measure of cerebral cortical activity elicited by a short inspiratory occlusion. - Transcranial magnetic stimulation (TMS) diaphragm: TMS is an established tool for investigating the corticospinal pathways involved in the control of breathing.	—

Measure

Time frame

Other MRI measures - T1 structural scan- focal/general (ROI) atrophy with voxel-based measuring of cerebral cortex volume - T2 structural scan- focal/general (ROI) atrophy with voxel-based measuring of cerebral cortex volume - Resting state functional connectivity (seed regions, derived from breathing related fMRI) Physiological measurements inside MRI - Breathing rate, and depth is recorded using an pneumotachograph that records airway flow. - Oxygen and carbon dioxide content in expired air is measured using a gas sampling module. - Electrodermal activity (EDA): EDA is a measure of sympathetic autonomic nervous system activation and is measured using Ag/AgCI electrodes placed on the palmar surface of the hand or distal phalanges. - Heart rate (HR): HR is measured using electrocardiography (ECG) using 3 lead electrodes attached to the skin surface, or using a pulse oximeter (photoplethysmograph) affixed to a finger. - Tracking of eye gaze and pupil diameter: eye tracking is used to inform analyses about the participant's gaze position and saccade latencies. Pupil diameter is used as a measure of sympathetic arousal. - Surface electromyography (EMG): EMG is measured using Ag/AgCI electrodes place on the skin over muscles of interest (diaphragm and intercostal muscles). Physiological measurements outside MRI - Pulmonary function testing: forced vital capacity, force expiratory volume in 1 second, maximal inspiratory pressure and maximal expiratory pressure will be determined using a hand-held device. - Hypercapnic ventilatory response curve (HCVR): HCVR will be determined using the CO2-rebreathing technique. - Respiratory related evoked potential (RREP): RREP is a measure of cerebral cortical activity elicited by a short inspiratory occlusion. - Transcranial magnetic stimulation (TMS) diaphragm: TMS is an established tool for investigating the corticospinal pathways involved in the control of breathing.

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Countries

Netherlands

Outcome results