Prevalence of Rest Dyspnea and Impact of Non Invasive Ventilation on Breathing Sensations in CCHS Patients (DyspnOndine)

Prevalence of Rest Dyspnea and Impact of Non Invasive Ventilation on Breathing Sensations in Patients With Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a neuro-respiratory disease characterized by lifethreatening sleep-related hypoventilation involving an alteration of CO2/H+ chemosensitivity. This suggests cortical activity during awakening to maintain breathing. Cortical activity to keep breathing is usually associated with breathing discomfort ; this is the case in healthy subjects under non invasive ventilation (NIV) or with expiratory charge as well as in patients with amyotrophic lateral sclerosis. This can suggest that CCHS may be breathless at rest and this discomfort could be reduced by NIV.

The objective is to evaluate dyspnea with a multi dimensional score, MDP, in CCHS patient at rest in every day life and during 1H session of NIV.

The investigators will perform a prospective, including 20 CCHS patients. MDP scores will be measure before and after 1H-non invasive ventilation as well as a visual scale of 100mm in order to evaluate variation of breathing discomfort before/after NIV.

The investigators expect that CCHS patients don't have rest dyspnea but NIV would improve breathing discomfort that would mean they have latent rest dyspnea.

Study Overview

• Status: Not yet recruiting
• Conditions: Dyspnea; Congenital Central Hypoventilation Syndrome; CCHS
• Intervention / Treatment: Other: MDP

• Study Type: Observational
• Enrollment (Anticipated): 20

Contacts and Locations

• Study Contact: Name: MARLENE BRET; Phone Number: 0698674449; Email: marlene.bret@aphp.fr

Study Locations

• France
  • Paris, France, 75013
    • INSERM-UPC UMR_S 1158, Service de Pneumologie et Réanimation, GH Pitié-Salpêtrière

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adults with CCHS who already require long terme NIV but not phrenic nerve stimulation

Description

Inclusion Criteria:

• patients with CCHS confirmed by genetic test
• patients with long term non invasive ventilation
• no recent condition that could impact breathing sensations such as infection, pulmonary embolism, heart failure

Exclusion Criteria:

• pregnancy
• phrenic nerve stimulation

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
CCHS; 20 patients presenting with central hypoventilation syndrome during spontaneous breathing and with Non Invasive Ventilation	Other: MDP; Multi dimensional dyspnea profile scores at rest and during non invasive ventilation

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
"Immediate unpleasantness" corresponding to A.1 item of the multidimensional dyspnea profile	Measure MDP scores before and after NIV	Change in MDP score between baseline and after 1 hour of NIV

Collaborators and Investigators

• Sponsor: Association pour le Développement et l'Organisation de la Recherche en Pneumologie et sur le Sommeil

Study record dates

Study Major Dates

• Study Start (Anticipated): December 15, 2021
• Primary Completion (Anticipated): October 1, 2022
• Study Completion (Anticipated): October 1, 2022

Study Registration Dates

• First Submitted: May 30, 2020
• First Submitted That Met QC Criteria: June 24, 2020
• First Posted (Actual): June 25, 2020

Study Record Updates

• Last Update Posted (Actual): July 12, 2021
• Last Update Submitted That Met QC Criteria: July 9, 2021
• Last Verified: July 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Respiratory Tract Diseases; Apnea; Respiration Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Disease; Signs and Symptoms, Respiratory; Sleep Apnea Syndromes; Respiratory Insufficiency; Syndrome; Dyspnea; Hypoventilation; Sleep Apnea, Central
• Other Study ID Numbers: 2020-A00215-34

Drug and device information, study documents

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