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

NCT03589144 | Completed

• 1 other identifier: NI17050J
• Study Type: observational
• Target: 132
• Locations: 1 country
• Sites: 1

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.

Conditions

Adrenal Hyperplasia, Congenital

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• 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)

  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)

  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.

  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

  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.

  15 months

Eligibility Criteria

• Age: 48 Hours - 120 Hours
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• Patients aged between 48 and 120 hours of life.
• Term of gestation: 30 to 41 weeks of gestation + 6 days
• non-opposition of the holders of parental authority

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Pôle de périnatalité Service de néonatologie

Paris, Île-de-France Region, 75012, France

Location

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 6, 2018
• First Posted: July 17, 2018
• Study Start: February 11, 2019
• Primary Completion: April 29, 2020
• Study Completion: April 29, 2020
• Last Updated: October 28, 2021

Record last verified: 2021-10

Locations

FR (1)