Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence (DYSROBIN)

Civil Hospices of Lyon

Status

Completed

Conditions

Pierre Robin Sequence

Brainstem Dysfunction

Treatments

Other: Recording of data

Study type

Interventional

Funder types

Other

Identifiers

NCT03423017

69HCL17_0816

Details and patient eligibility

About

Introduction Pierre Robin Sequence, PRS, incidence is about one hundred births per year in France. The main neonatal clinical manifestations are secondary to airway obstruction and food difficulties related to swallowing disorders. Despite recent progress, the pathogenesis of PRS is not fully understood.

The hypothesis is that brainstem dysfunction, BSD, plays a central role in the pathogenesis of PRS.

The purpose of the study is to achieve a complete evaluation of BSD to specify its role in the pathogenesis of PRS.

The primary objective is to compare central apnea index (CAI) of infants with PRS with those of infants with isolated airway obstruction (AWO) and those of healthy infants in order to clarify the direct role of BSD.

Material and Methods This prospective interventional study will be carried out in Lyon at the Hôpital Femme-Mère-Enfant and in Paris at the Hôpital Necker-Enfants Malades for 2 years. 3 groups of patients will be studied: PRS, 50 patients, AWO, 50 patients and healthy, 30 patients, included before 2 months of life. Infants will be followed for a maximum of 10 months. The evaluations will be carried out for 48 hours between birth and 2 months of life and then for 24 hours between 6 and 10 months of life for PRS and AWO group. Concerning the healthy group, the evaluation will be carried out during 48h during a single hospitalization before 2 months. Polysomnography, holter-ECG, 24h gas exchange, impedance-pH monitoring and mental region EEG will be performed. The central apnea index (mean number per hour), obstructive apnea index, non-nutritive swallowing index (NNS), gastroesophageal reflux and NNS-respiration coordination will be assessed for each stage of sleep and compared between the three groups of patients.

Enrollment

113 patients

Sex

All

Ages

1 day to 2 months old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria for the group 1

infants with PRS

Inclusion Criteria for the group 2 - infant with isolated airway obstruction

Inclusion Criteria for the group 3

healthy infant : siblings of sudden unexpected death of the infant or with any known pathology

Inclusion Criteria for the 3 groups

During one hospitalization or program for one hospitalization
Parental consent
Social safety affiliation

Exclusion Criteria:

Birth before 37 SA
Neonatal complication
Group 2 only: AWO with neurological disease including brainstem dysfunction
Group 3 only : AWO, ENT disease or syndromic disease, neurological disease including brainstem dysfunction, Intra uterine growth retardation

Trial design

Primary purpose

Other

Allocation

Non-Randomized

Interventional model

Parallel Assignment

Masking

None (Open label)

113 participants in 3 patient groups

Pierre Robin sequence

Other group

Description:

Infants with PRS : retrognathism, glossoptosis, cleft palate Group 1a : isolated PRS Group 1b : PRS with bone disease or collagen disease (Stickler) Group 1c : syndromic PRS or associated PRS without bone disease or collagen disease

Treatment:

Other: Recording of data

Superior airway obstruction, AWO

Other group

Description:

Infants with AWO : laryngomalacia, tracheal stenosis, laryngeal stenosis, others etiology

Treatment:

Other: Recording of data

Healthy infants

Other group

Description:

Healthy infants : siblings of sudden unexpected death of the infant