Apparent Life Threatening Events, Sudden Infant Death Syndrome and Muscarinic Receptors

NCT03278977 | Terminated

• 1 other identifier: 6432
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 4

Brief Summary

Apparent Life-Threatening Events (ALTE) in infants often lead to severe neurological complications or to sudden death. In such situations, cardio-pediatricians and intensive care physicians have no specific diagnosis or treatment. In a recent translational research (INSERM-DHOS), our team has reported a myocardiac abnormality in a rabbit model of vagal hyperreactivity which is also present in the human hearts of infants deceased from sudden death, i.e. increased M2 muscarinic receptors (M2R) density associated with compensative increased enzymatic activity and overexpression of acetylcholine esterase (AchE). In a recent PHRC-I study (article in preparation), these abnormalities have also been observed in the blood of patients, infants as well as adults, exhibiting severe vagal syncopes. We observed, even more importantly, similar abnormalities in infants under 1 year of age with very severe idiopathic ALTE (iALTE) compared with normal subjects and with patients who presented ALTE with identified etiologies (JAMA Pediatric, 2016 May). The aim of this present study is to validate the overexpression of M2R as a marker of risk of iALTE in infant under 1 year.

Conditions

Apparent Life-Threatening Event in Infants Under One Year of Age

Keywords

Apparent Life-Threatening Event; ALTE; Sudden Infant Death

Outcome Measures

Primary Outcomes (1)

• Muscarinic M2 receptor mRNA expression in blood

  Blood sample will be collected not later than 24 hours after the inclusion in the study and will be frozen until centralized analysis. A qRT-PCR will be performed for quantification of CHRM2 gene expression in blood (mRNA expression). Interim analysis with the 7-8 first samples per group together. Final analysis with all samples at the study completion.

  At the admission in the hospital, within 24 hours after the inclusion in the study

Secondary Outcomes (1)

• Acetylcholinesterase mRNA expression in blood

  At the admission in the hospital, within 24 hours after the inclusion in the study.

Study Arms (2)

ALTE group

OTHER

Infants aged between 28 days and 12 months presenting severe(s) syncope(s) requiring hospitalization, for which a cause was identified during hospitalization.

Biological: Blood sample for specific analyzes

iALTE group

OTHER

Infant aged between 28 days and 12 months presenting a severe syncope(s) requiring hospitalization, for which no etiology was found during hospitalization.

Biological: Blood sample for specific analyzes

Interventions

Blood sample for specific analyzes BIOLOGICAL

Standard management of ALTE * Hospitalization in pediatric intensive care unit or pediatric emergencies * Etiologic research * Blood volume, 2.5mL in PaxGene® tube, for specific analyzes (M2R, AchE)

ALTE group; iALTE group

Eligibility Criteria

• Age: 28 Days - 12 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Infant aged between 28 days and 12 months, presenting severe syncope(s) requiring medical management, hospitalized in a pediatric intensive care unit or pediatric emergencies
• Consent signed and dated by the legal representatives
• Patients affiliated to a social security system

You may not qualify if:

• Infant with known cardiovascular, neurologic, infectious, toxic or metabolic pathologies before enrollment (before the syncope)
• Subject on medication for more than 3 months before enrollment
• Impossibility to clearly inform the legal representatives (comprehension problems)

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead
• Groupement Interrégional de Recherche Clinique et d'Innovation: collaborator

Study Sites (4)

Pediatric Intensive Care unit/Emergency unit - Besançon University Hospital

Besançon, 25030, France

Location

Pediatric Intensive Care Unit - Brabois Hospital - Nancy University Hospital

Nancy, 54500, France

Location

Pediatric unit - Maison Blanche Hospital - Reims University Hospital

Reims, 51092, France

Location

Pediatric intensive care unit/ Pediatric unit- Strasbourg University Hospital - Hautepierre Hospital

Strasbourg, 67200, France

Location

MeSH Terms

Conditions

Brief, Resolved, Unexplained Event; Sudden Infant Death

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Respiratory Insufficiency; Respiration Disorders; Respiratory Tract Diseases; Cyanosis; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Signs and Symptoms, Respiratory; Death, Sudden; Death; Pathologic Processes; Infant Death

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Charlie DE MELO, MD

  Hôpitaux Universitaires de Strasbourg

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: Blood sample analysis will be blinded
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 31, 2017
• First Posted: September 12, 2017
• Study Start: September 15, 2018
• Primary Completion: May 11, 2022
• Study Completion: May 11, 2022
• Last Updated: July 10, 2026

Record last verified: 2022-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (4)