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

• Conditions: Congenital Central Hypoventilation Syndrome; Dyspnea; CCHS
• Interventions: Other: MDP

• Registration Number: NCT04447196
• Lead Sponsor: Association pour le Développement et l'Organisation de la Recherche en Pneumologie et sur le Sommeil

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-05-30
• Study First Submitted QC: 2020-06-24
• Study First Posted: 2020-06-25
• Status Verified: 2021-07
• Last Update Submitted: 2021-07-09
• Last Update Posted: 2021-07-12
• Study Start: 2021-12-15
• Primary Completion: 2022-10-01
• Study Completion: 2022-10-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 20

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
CCHS	MDP	20 patients presenting with central hypoventilation syndrome during spontaneous breathing and with Non Invasive Ventilation

Primary Outcome Measures

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

Trial Locations

Locations (1)

INSERM-UPC UMR_S 1158, Service de Pneumologie et Réanimation, GH Pitié-Salpêtrière; 🇫🇷 Paris, France