Aurélie Portefaix

ORCID: 0000-0003-4981-821X
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Research Areas
  • Neonatal Respiratory Health Research
  • Pharmaceutical studies and practices
  • Respiratory viral infections research
  • Respiratory Support and Mechanisms
  • Sepsis Diagnosis and Treatment
  • Neurogenetic and Muscular Disorders Research
  • Parathyroid Disorders and Treatments
  • Streptococcal Infections and Treatments
  • Neonatal and fetal brain pathology
  • Congenital Diaphragmatic Hernia Studies
  • Neonatal and Maternal Infections
  • Hemodynamic Monitoring and Therapy
  • Central Venous Catheters and Hemodialysis
  • Renal function and acid-base balance
  • Effects and risks of endocrine disrupting chemicals
  • Parvovirus B19 Infection Studies
  • Medical Imaging and Pathology Studies
  • Thyroid and Parathyroid Surgery
  • Immune Response and Inflammation
  • Pharmaceutical Economics and Policy
  • Autoimmune and Inflammatory Disorders Research
  • Biomedical Research and Pathophysiology
  • Infant Development and Preterm Care
  • Kawasaki Disease and Coronary Complications
  • Anesthesia and Neurotoxicity Research

Hospices Civils de Lyon
2017-2025

Inserm
2017-2024

Université Claude Bernard Lyon 1
2021-2024

Hôpital Louis Pradel
2021-2024

Centre National de la Recherche Scientifique
2022-2024

Laboratoire de Biométrie et Biologie Evolutive
2021-2024

HCL Technologies (India)
2024

Hôpital Edouard Herriot
2024

Hôpital Lyon Sud
2020

bioMérieux (France)
2020

Primary hyperoxaluria type 1 (PH1) is a rare, progressive, genetic disease with limited treatment options. We report the efficacy and safety of lumasiran, an RNA interference therapeutic, in infants young children PH1.This single-arm, open-label, phase 3 study evaluated lumasiran patients aged <6 years PH1 estimated glomerular filtration rate >45 mL/min/1.73 m2, if ≥12 months, or normal serum creatinine, <12 months. The primary end point was percent change spot urinary oxalate to creatinine...

10.1016/j.gim.2021.10.024 article EN cc-by Genetics in Medicine 2021-12-08
Claudia A. Chiriboga Claudio Bruno Tina Duong Dirk Fischer Eugenio Mercuri and 95 more Janbernd Kirschner Anna Kostera‐Pruszczyk Birgit Jaber Ksenija Gorni Heidemarie Kletzl Imogen Carruthers Carmen Martín Francis Warren R. Scalco Kathryn R. Wagner Francesco Muntoni Nicolas Deconinck Irina Balikova Inge Joniau Valentine Tahon Sylvia Wittevrongel Nathalie Goemans Cathérine Cassiman Lies Prové Lisa Vancampenhout M. van den Hauwe Annelies Van Impe C. Cancès Vincent Soler Lauriane Maillard De La Morandais Delphine Vovan Pascal Cintas Françoise Auriol Marianne Mus Gwennaelle Alphonsa Valerie Bellio Olaia Gil Mato Florence Flamein Cécile Evrard Amina Ziouche Ikram Bouacha-Allou Philippe Debruyne Gilles Derlyn Sabine Defoort Florian Leroy Loïc Danjoux Isabelle Desguerre Dominique Brémond‐Gignac Maxence Rateuax E. Deladrière Carole Vuillerot Quentin Veillerot Bénédicte Sibille-Dabadi Aurélie Barrière Marie Tinat Manel Saidi Stéphanie Fontaine Camille De Montferrand Laure Le-Goff Aurélie Portefaix Ulrike Walther Louvier Pierre-André Duval Pascale Caradec Souad Touati Alberto Zamora Herranz Janbernd Kirschner Jan Bollig Fanni Molnár Sibylle Emilie Vogt Astrid Pechmann David Schorling Sabine Wider Heike Kölbel Ulrike Schara Frederik Braun Andrea Gangfuß Tim Hagenacker Anja Eckstein Dirk Dekowski Michael Oeverhaus M Stoehr Bárbara Andres Karin Smuda Enrico Bertini Adele D’Amico Sergio Petroni Paola Valente Anna Maria Bonetti Adelina Carlesi Irene Mizzoni Claudio Bruno Marina Pedemonte Noemi Brolatti Enrico Priolo Giuseppe Rao Lorenza Sposetti Simone Morando Giacomo P. Comi Silvia Osnaghi Valeria Minorini

Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) risdiplam in previously treated pediatric adult types 1–3 SMA. Here, an analysis performed after all had received at least 1 year risdiplam. Patients confirmed diagnosis 5q-autosomal recessive SMA between ages 6 months 60 years were...

10.1007/s40120-023-00444-1 article EN cc-by-nc Neurology and Therapy 2023-02-13

Significant muscle wasting develops in critically ill adults, with subsequent worse outcomes. In the pediatric setting, occurrence and effects of are undescribed; this is part due to a lack validated, objective methods for assessing wasting. A single measurement quadriceps femoris thickness has failed show consistent reproducibility. We hypothesized that averaging repeated measurements could afford good reproducibility allow decline detection monitoring.A prospective bedside observational...

10.1097/pcc.0000000000001235 article EN Pediatric Critical Care Medicine 2017-06-23

Abstract Background ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from broad geographical area and provide further contextualization results FIREFISH (NCT02913482) interventional risdiplam treatment in SMA. Methods Data were extracted medical records patients with first symptoms attributable SMA between 28 days 3 months age, genetic confirmation SMA, confirmed survival motor neuron 2 copy number two or...

10.1186/s13023-022-02455-x article EN cc-by Orphanet Journal of Rare Diseases 2022-07-29

Transient hypothyroxinemia of prematurity (THOP) has been associated with suboptimal neurodevelopment. We aimed to assess neurodevelopment in very preterm infants treated and untreated THOP. This study was a multicentre, cohort study, based on prospectively collected data four French level III neonatal intensive care units. Infants born before 32 weeks gestation between 2009 2020 who underwent thyroid function test were included. THOP defined as low free thyroxine unelevated stimulating...

10.1111/apa.17610 article EN Acta Paediatrica 2025-01-31

Abstract Background Fever is one of the leading causes consultation in pediatric emergency department for patients under age 3 years. Distinguishing between bacterial and viral infections etiologies febrile remains challenging. We hypothesized that specific host biomarkers infections, such as type I-interferon (IFN), could help clinicians’ decisions limit antibiotic overuse. Methods Paxgene tubes serum were collected from children (n = 101), 7 days to 36 months, with proven or being treated...

10.1093/clinchem/hvaa089 article EN cc-by Clinical Chemistry 2020-03-30

Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed.Among 1482 children (< 15 years) registered the French LCH registry (1994-2018), 111 (7.4%) had lung involvement. This retrospective study included data for 17 (1.1%) patients that required one or more intensive care unit (ICU) admissions respiratory failure.The median age was 1.3 years at first ICU hospitalization. Of patients, 14...

10.1186/s13023-020-01495-5 article EN cc-by Orphanet Journal of Rare Diseases 2020-09-09

Objectives: Micronutrient supplementation in critically ill adults remains controversial. In the pediatric setting, impact of oxidative stress on overall micronutrient status has been poorly explored, due to limited number studies and confounding factors (i.e., malnutrition or extra losses). order better understand this phenomenon, we aim describe status, focusing seven micronutrients, well-nourished children presenting with severe stress. Design: Prospective, transversal, observational,...

10.1097/pcc.0000000000001626 article EN Pediatric Critical Care Medicine 2018-06-20

Despite the high prevalence of late-onset sepsis (LOS) in neonatal intensive care units, a reliable diagnosis remains difficult. This prospective, multicenter cohort study aimed to identify biomarkers early rule out LOS 230 neonates ≥7 days life with signs suspected LOS. Blood levels eleven protein (PCT, IL-10, IL-6, NGAL, IP-10, PTX3, CD14, LBP, IL-27, gelsolin, and calprotectin) were measured. Patients received standard blinded biomarker results, an independent adjudication committee...

10.3390/biomedicines11061703 article EN cc-by Biomedicines 2023-06-13

Toxic shock syndromes (TSS) are severe shocks due to staphylococcal or streptococcal infection that require specific treatments. The early recognition of these is crucial improve their outcomes. Objectives primary objective this study was compare characteristics and outcomes TSS in children, order identify putative clinical diagnostic criteria. Secondary objectives were determine the toxin gene profiles associated isolated strains relevance measuring Vβ T-cell signatures confirm diagnosis....

10.3389/fped.2018.00360 article EN cc-by Frontiers in Pediatrics 2018-11-28

Purpose Toxic shock syndrome (TSS) is a rare disease responsible for significant morbidity and mortality. Intravenous immunoglobulin (IG) therapy in paediatric TSS could improve organ failure, but more consistent efficacy safety data are needed. Our objective was to determine whether randomised clinical trial (RCT) assessing intravenous IG children feasible. Methods We performed multicentre, feasibility, double-blind RCT of high-dose versus albumin 4% (control group) within the first 12...

10.1136/archdischild-2022-325274 article EN cc-by-nc Archives of Disease in Childhood 2024-02-15

Abstract Objectives Bronchopulmonary dysplasia (BPD) is the most common complication in preterm infants. This study aimed at identifying factors associated with early or late weaning failure from respiratory support oxygen (O 2 ) infants BPD requiring O therapy after discharge neonatal intensive care unit (NICU). Methods retrospective was conducted NICU of a tertiary hospital, born before 32 weeks gestation between 2012 and 2021, discharged (tracheostomy [TT], invasive ventilation [IV],...

10.1002/ppul.27367 article EN cc-by-nc-nd Pediatric Pulmonology 2024-10-25

Regarding nirsevimab immunization status, among 1085 infants hospitalized for bronchiolitis, the odds of hospitalization respiratory syncytial virus bronchiolitis were 4.7 times higher nonimmunized children. Immunized less likely to require oxygen supplementation (20.2% vs. 30.6%, P = 0.02) and had a 1-day shorter hospital stay. Respiratory was frequent severe in immunized with nirsevimab.

10.1097/inf.0000000000004630 article EN cc-by-nc-nd The Pediatric Infectious Disease Journal 2024-11-26
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