Apparent Life Threatening Events, Sudden Infant Death Syndrome and Muscarinic Receptors
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Sponsor
- Enrollment
- 12
- Locations
- 8
- Primary Endpoint
- Muscarinic M2 receptor mRNA expression in blood
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Basic Science
- Masking
- Single (Outcomes Assessor)
Masking Description
Blood sample analysis will be blinded
Eligibility Criteria
- Ages
- 28 Days to 12 Months (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Exclusion Criteria
- •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)
- •Subject in exclusion period for clinical trial (previous or current study)
Arms & Interventions
ALTE group
Infants aged between 28 days and 12 months presenting severe(s) syncope(s) requiring hospitalization, for which a cause was identified during hospitalization.
Intervention: Blood sample for specific analyzes (Biological)
iALTE group
Infant aged between 28 days and 12 months presenting a severe syncope(s) requiring hospitalization, for which no etiology was found during hospitalization.
Intervention: Blood sample for specific analyzes (Biological)
Outcomes
Primary Outcomes
Muscarinic M2 receptor mRNA expression in blood
Time Frame: At the admission in the hospital, within 24 hours after the inclusion in the study
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.
Secondary Outcomes
- Acetylcholinesterase mRNA expression in blood(At the admission in the hospital, within 24 hours after the inclusion in the study.)