Skip to main content
OpenTrials
Completed

NCT Number: NCT03423017

Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Pierre Robin Sequence Apnea Brainstem Dysfunction Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Jaw Abnormalities Jaw Diseases Maxillofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Pathological Conditions, Signs and Symptoms Pierre Robin Syndrome Respiration Disorders Respiratory Tract Diseases Signs and Symptoms Signs and Symptoms, Respiratory Stomatognathic Diseases Stomatognathic System Abnormalities

Age range

1 day–2 month

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hopital Femme Mère Enfant, Bron, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Recording of data

Other

Recording during one hospitalization of 48 hours between birth and 2 months of life and one hospitalization of 24 hours between 6 and 10 months of life

  • General data: age, term of birth, birth weight, gender, diseases, weight and size at recording, cranial perimeter, food, drugs : first and second visit
  • Respiratory rate, respiratory signs, stridor : first and second visit
  • 24h holter-ECG : first and second visit
  • 24h impedance pH-metry : first visit
  • Nocturne polysomnography : 50% prone position, 50% supine : sleep analyze, obstructive apnea hypopnea index (OAHI), central apnea index (CAI), periodical breathing, micro arousals index, non-nutritive swallowing analyze,(mental region electromyogram) : first and second visit
  • 24 h gaz exchanges : mean, maximal PtcCO2 and % of time spent above 50 mmHg , SpO2 under 90%, 85% et 80% and desaturations index : first and second visit
  • succimetry procedure : at first visit only between birth and 2 months

Primary outcomes

  1. Central apnea index (CAI) (mean number per hour)

    Time frame: 2 months of life during one nocturne polysomnography

    To compare central apnea index (CAI) (mean number per hour), according to the ASSM guidelines 2007, recording by one nocturne polysomnography, between 3 groups of infants by sleep step, between birth and 2 months of life, in order to clarify the direct role of BSD.

    According to the ASSM guidelines 2007, the central apnea index is measured : mean number of central apnea per hour.

Secondary outcomes

  1. Obstructive apnea hypopnea index (OAHI)(mean number per hour)

    Time frame: 2 months

    To compare obstructive apnea hypopnea index (OAHI)(mean number per hour) according to the guidelines ASSM 2007, recording by one nocturne polysomnography, between 3 groups of infants by sleep step, between birth and 2 months of life According to the ASSM guidelines 2007, the obstructive apnea hypopnea index is measured: mean number of obstructive apnea and hypopnea per hour.

  2. Comparison of OAHI(mean number per hour) and CAI

    Time frame: between 6 and 10 months of life

    To compare obstructive apnea hypopnea index (OAHI)(mean number per hour) and central apnea index (CAI) (mean number per hour), between PRS group and AWO group by sleep step between 6 and 10 months of life

    According to the ASSM guidelines 2007, the obstructive apnea hypopnea index, mean number of obstructive apnea and hypopnea per hour, and the central apnea index are measured, mean number of central apnea per hour.

  3. Micro arousals index (mean number per hour)

    Time frame: up to 2 months of life

    To compare micro arousals index (mean number per hour) between the 3 groups by sleep step between birth and 2 months of life and between PRS group and AWO group between 6 and 10 months of life to clarify the role of BSD in sleep microstructure

    According to the ASSM guidelines 2007, micro arousals index (mean number per hour) are measured.

  4. Micro arousals index (mean number per hour)

    Time frame: up to 10 months of life

    To compare micro arousals index (mean number per hour) between the 3 groups by sleep step between birth and 2 months of life and between PRS group and AWO group between 6 and 10 months of life to clarify the role of BSD in sleep microstructure

    According to the ASSM guidelines 2007, micro arousals index (mean number per hour) are measured.

  5. Non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing

    Time frame: up to 2 months of life

    To compare non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing between the 3 groups by sleep step between birth and 2 months of life and between PRS group and AWO group between 6 and 10 months of life to clarify the role of BSD in swallowing disorders and NNS-respiration coordination

    non-nutritive swallowing index (NNS), mean number per hour, and apnea secondary to non-nutritive swallowing, mean number per hour, monitoring by the mental region EEG and the one nocturne polysomnography

  6. Non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing

    Time frame: up to 10 months of life

    To compare non-nutritive swallowing index (NNS) and apnea secondary to non-nutritive swallowing between the 3 groups by sleep step between birth and 2 months of life and between PRS group and AWO group between 6 and 10 months of life to clarify the role of BSD in swallowing disorders and NNS-respiration coordination

    non-nutritive swallowing index (NNS), mean number per hour, and apnea secondary to non-nutritive swallowing, mean number per hour, monitoring by the mental region EEG and the one nocturne polysomnography

  7. Positive and negative pressures, their temporal organizations evaluated using succimetry procedure between the 3 groups of patients at 0 and 2 months of life

    Time frame: up to 2 months of life

    Compare the positive and negative pressures, their temporal organizations evaluated using succimetry procedure between the 3 groups of patients at 0 and 2 months of life.

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Acronym: DYSROBIN

Important dates

Study start
2018
Primary completion
2023
Study completion
2023
First posted
Feb 6, 2018
Registry last updated
Jan 10, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.