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

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

Status

Unknown

Conditions

Congenital Central Hypoventilation Syndrome

Dyspnea

CCHS

Treatments

Other: MDP

Study type

Observational

Funder types

Other

Identifiers

NCT04447196

2020-A00215-34

Details and patient eligibility

About

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.

Enrollment

20 estimated patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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