Clinical trial NCT03589144: LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT)
Official title: LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening: a Pilot, Multicenter, Prospective Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Adrenal Hyperplasia, Congenital
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2018-07-17
Enrollment: 132
Sex: ALL
Minimum age (years): 48
Maximum age (years): 120
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: National neonatal screening covers all newborns aged between 48 and 120 hours, regardless of birth term. Premature babies born before 30 weeks of amenorrhoea are cared for in specialized neonatal or intensive care units and are intensively monitored to rule out any risk of not diagnosing HCS in a child with it. This is why our study will be conducted on a newborn population with a birth term greater than 30 weeks of amenorrhoea.

Brief summary: This research uses the Liquid Chromatography coupled to tandem Mass Spectrometry (LC-MS / MS) technique on dried blot spot samples for the neonatal screening of congenital adrenal hyperplasia.

The main objective of this study is to demonstrate that this technique allow dosage of adrenal steroids on dried blot spot samples as efficiently and with the same sensitivity than the current technic on a cohort of 132 newborns aged 2 to 5 days, with a gestational age greater than or equal to 30 weeks of amenorrhea.


Eligibility criteria: Inclusion Criteria:

* Patients aged between 48 and 120 hours of life.
* Term of gestation: 30 to 41 weeks of gestation + 6 days
* weight at inclusion ≥ 1000 g
* non-opposition of the holders of parental authority

Exclusion Criteria:

* Patient who already had neonatal screening prior to inclusion.
* Patients whose health status contraindicates additional blood collection at the time of neonatal screening.
* Inability to give legal representatives of newborns informed information
* Minor Parents

Primary outcomes:
measure: Intra-class correlation coefficient between the values of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term in neonates aged from 48 to 120 hours of life
timeFrame: 15 months
Secondary outcomes:
measure: Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates according to the term of birth (weeks)
timeFrame: 15 months
measure: Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates of life according to the mode of delivery (low or Caesarean section before work)
timeFrame: 15 months
measure: Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates according to the presence or not of a corticotherapy antenatal.
timeFrame: 15 months
measure: Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of non-maternal-fetal infection
timeFrame: 15 months
measure: Study the difference between the levels of steroids assayed by LC-MS / MS on dried blood spot and serum of preterm infants and full-term neonates aged from 48 to 120 hours of life according to the presence or not of newborn stress.
timeFrame: 15 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Pôle de périnatalité Service de néonatologie
state: Ile De France
Study officials:
References: