Active clinical trials for "Pierre Robin Syndrome"

This is the 5th in a series of physiological studies to determine the amino acid requirements of infants. There have been 4 studies to determine tyrosine, methionine, threonine and lysine requirements in infants when they are fed by parenterally (intravenously). Due to the new requirements of Health Canada for preparation of parenteral solutions, the investigators are starting the phase of the study that determines the enteral (oral) intake of threonine in 1 - 6 mo infants in the interim.

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.

In a longitudinal cohort study, we want to assess the effect of the pre-epiglottic baton plate, the main treatment approach currently used in Germany for Pierre-Robin-Like phenotype, on upper airway obstruction and failure to thrive using objective criteria (mixed-obstructive apnea index assessed by polysomnography, standard deviation score for body weight) upon admission and 3 months after hospital discharge.

The investigators hypothesize that a functional computational model that simulates the mechanical and aerodynamic behavior of the upper airway in children with Pierre Robin Sequence (PRS) and laryngeal lesions (e.g. subglottic stenosis or SGS) can be used as an effective diagnostic and treatment planning tool.

In cleft surgery there is no current general agreement on the treatment strategy of patients with the Pierre Robin Sequence. The timing of surgery and the surgical approach depends on the treating physician or the hospital facility. Literature regarding peri- and postoperative complications in the target population are lacking. The investigators aim to retrospectively review the charts of all cleft patients, both PRS and non-PRS, treated with an adapted Furlow palatoplasty between 01/01/2011 and 31/08/2015. The incidence of peri- and postoperative complications, with a specific focus on respiratory complications, will be examined. The value of demographic, surgical and postoperative parameters will be examined as potential risk factors for the development of complications.

Congenital retrognathia, with or without Pierre Robin Sequence (PRS), is a rare anomaly which can be associated with chromosomal abnormalities. Respiratory and feeding consequences can be present at birth. After birth, the diagnosis of retrognathia is based on the clinical examination. Cephalometry can be used to complete the diagnosis. Several authors have proposed the use of objective quantitative ultrasound parameters for the antenatal screening of PRS. In our study, the investigators evaluated fetal cephalometry. The aim First, the investigators studied the inter- and intra-observer reproducibility of cephalometry. Second, the investigators established reference values for antenatal cephalometry in normal fetuses. Third, the investigators compared the diagnostic performance of cephalometry and the other angles described in the literature for the diagnosis of retrognathia.

The study team has made the hypothesis that the intensity of the phonatory disorders (rhinolalia), and of the maxillo-mandibular growth anomalies (facial morphology), may have negative effects on the quality of life of adolescents with Pierre Robin sequence. The investigators also want to assess the impact of 2 different surgical protocols of closure of the cleft palate (1 or 2 step(s)), on the current phonatory and morphology aspects. These 2 protocols were performed, by 2 parisian clinical teams, that have now been merged at Necker hospital.

The purpose of this prospective, multi-center, longitudinal study is to assess clinical outcomes related to the surgical treatment of PRS ( Pierre Robin Sequence) by MDO (Mandibular distraction osteogenesis). This study aims to develop a scoring system to determine success and complication rate pre and post MDO.