LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT) (SPECTROSPOT)

LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening: a Pilot, Multicenter, Prospective Study

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.

Study Overview

• Status: Completed
• Conditions: Adrenal Hyperplasia, Congenital

• Study Type: Observational
• Enrollment (Actual): 132

Contacts and Locations

Study Locations

• France
  • Ile De France
    • Paris, Ile De France, France, 75012
      • Pôle de périnatalité Service de néonatologie

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 days to 5 days (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Intra-class correlation coefficient between the values of 21 Deoxycortisol (21DF), 17hydroxyprogesterone (17OHP), pregnenolone, 17hydroxypregnenolone and cortisol 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	15 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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)	Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol 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 term of birth (weeks)	15 months
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)	Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol 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 mode of delivery (low or Caesarean section before work)	15 months
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.	Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol 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 a corticotherapy antenatal.	15 months
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	Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol 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 (chorioamnionitis, neonatal infection at the time of screening)	15 months
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.	Study the difference between the levels 21DF, 17OHP, pregnenolone, 17hydroxypregnenolone and cortisol 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 (septic shock and/or hypovolemic shock).	15 months

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): February 11, 2019
• Primary Completion (Actual): April 29, 2020
• Study Completion (Actual): April 29, 2020

Study Registration Dates

• First Submitted: June 6, 2018
• First Submitted That Met QC Criteria: July 16, 2018
• First Posted (Actual): July 17, 2018

Study Record Updates

• Last Update Posted (Actual): October 28, 2021
• Last Update Submitted That Met QC Criteria: October 22, 2021
• Last Verified: October 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Endocrine System Diseases; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Adrenal Gland Diseases; Steroid Metabolism, Inborn Errors; Hyperplasia; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Adrenocortical Hyperfunction
• Other Study ID Numbers: NI17050J

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No