Salt Wasting, Hydro-sodium Balance and Fludrocortisone Requirement in Congenital Adrenal Hyperplasia

NCT03550261 | Completed

• 1 other identifier: NI17028J
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

Congenital adrenal hyperplasia (CAH) in its classic neonatal form with severe salt-wasting represents a challenge for pediatric endocrinologists in order to maintain sodium balance, especially as the physiopathology and optimal therapeutic management of this urinary salt loss remain poorly studied, particularly during the neonatal period. The human kidney presents the characteristic of being immature at birth with a functional tubulopathy associating sodium wasting and difficulty to concentrate urine, in connection with a transient renal resistance to aldosterone action, which is exacerbated in case of CAH by insufficiency of aldosterone production. The objective of project is therefore to study the secretion profiles of plasma and urinary steroids in neonates with classical salt-wasting form of CAH before treatment and under treatment with Fludrocortisone and Hydrocortisone during the first months of life, using an advanced technology: LC-MSMS (Liquid chromatography coupled with tandem mass spectrometry). The study of the existence of a correlation between plasma and urinary steroid profiles will also make it possible to subsequently consider simplified medical follow-up for these patients. This project will lead to a better understanding of sodium handling and steroid secretion and excretion profiles in CAH neonates, in order to improve the therapeutic management of mineralocorticoid replacement in these patients.

Conditions

Congenital Adrenal Hyperplasia (CAH)

Keywords

CAH; Salt-wasting; LC-MSMS; plasma and urine steroid profile; Fludrocortisone

Outcome Measures

Primary Outcomes (2)

• Plasma LC-MSMS dosages

  Determine if a correlation exist between plasma and urinary steroid profile by LC-MSMS and genotype before treatment, and if there exist a correlation to the Fludrocortisone dose after 48h of treatment

  48 hours

• Urinary LC-MSMS dosages

  Determine if a correlation exist between plasma and urinary steroid profile by LC-MSMS and genotype before treatment, and if there exist a correlation to the Fludrocortisone dose after 48h of treatment

  48 hours

Secondary Outcomes (2)

• Plasma LC-MSMS dosages

  day1, day2, 1 month, 3 months and 6 months

• Urinary LC-MSMS dosages

  day1, day2, 1 month, 3 months and 6 months

Eligibility Criteria

• Age: 1 Day - 15 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Newborns (boys and girls) diagnosed with a neonatal form of CAH and followed up in one of the following 5 French reference centres: Robert Debré Hospital, Paris; Necker Hospital, Paris; Bicêtre Hospital, Le Kremlin-Bicêtre; Trousseau Hospital, Paris; Femme-Mère-Enfant Hospital, Lyon.

You may qualify if:

• Newborns with confirmation or strong suspicion of diagnosis of congenital adrenal hyperplasia:
• Newborns with abnormal differentiation of the external genitalia, without palpable gonad at birth and high 17 OHP plasma level
• Newborns diagnosed with antenatal CAH,
• Newborns diagnosed at birth with CAH (due to parents at risk of transmission of the disease),
• Newborns diagnosed by systematic screening for 17 OHP on the 3rd day of life (thus having a high dosage of 17 OHP), confirmed by a second sample.
• For all these patients the diagnosis of CAH will have to be confirmed secondarily by molecular biology.

You may not qualify if:

• Newborn with an anomaly of sexual differentiation from another origin,
• Newborn already under treatment with Fludrocortisone and/or Hydrocortisone.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Robert Debré

Paris, 75019, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

For blood samples, the biochemistry laboratory of each investigating centre will centrifuge all blood samples, collect the plasma and transfer it into a new tube on which the corresponding labels will be affixed. The tubes will be frozen at -20° C in a freezer at a specific location where the tubes with the same identification number (blood and urine sample from the same child) will be grouped. The urinary samples (H0, H48, M1, M3 and M6) collected on a gauze compress will arrive at the laboratory of each centre in tubes already labelled (sterile urine jar) and will be frozen directly at -20° C with the tubes.

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 Officials

• Martinerie Naetitia, PHD

  APHP

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: April 5, 2018
• First Posted: June 8, 2018
• Study Start: May 17, 2018
• Primary Completion: November 15, 2021
• Study Completion: November 15, 2021
• Last Updated: September 16, 2022

Record last verified: 2022-09

Locations

FR (1)