Clinical trial NCT03423017: Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence
Official title: Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Pierre Robin Sequence
Brainstem Dysfunction
Keywords: Pierre Robin sequence
Brainstem
pathogenesis
swallowing
apnea
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2018-02-06
Enrollment: 113
Sex: ALL
Minimum age (years): 1
Maximum age (years): 2
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

Brief summary: 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.


Eligibility 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

Primary outcomes:
measure: Central apnea index (CAI) (mean number per hour)
timeFrame: 2 months of life during one nocturne polysomnography
Secondary outcomes:
measure: Obstructive apnea hypopnea index (OAHI)(mean number per hour)
timeFrame: 2 months
measure: Comparison of OAHI(mean number per hour) and CAI
timeFrame: between 6 and 10 months of life
measure: Micro arousals index (mean number per hour)
timeFrame: up to 2 months of life
measure: Micro arousals index (mean number per hour)
timeFrame: up to 10 months of life
measure: Non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing
timeFrame: up to 2 months of life
measure: Non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing
timeFrame: up to 10 months of life
measure: Positive and negative pressures, their temporal organizations evaluated using succimetry procedure between the 3 groups of patients at 0 and 2 months of life
timeFrame: up to 2 months of life
Other outcomes:
Locations:
city: Bron
country: France
facility: Hopital Femme Mère Enfant
city: Paris
country: France
facility: APHP-Necker
Study officials:
References: