Adult Height Prediction in Congenital Adrenal Hyperplasia (OPALE Model)

An Adult Height Prediction Model for Congenital Adrenal Hyperplasia From a National Cohort (OPALE Model Study)

Congenital Adrenal Hyperplasia (CAH) is a genetic rare disease, which alters the adrenal production of gluco and mineralo corticoïds. The treatment consists in supplementing children with hydrocortisone. Despite care for these children has improved substantially across decades, short adult height (AH) still remains an important consequence of the disease. About 20% of patients have an AH below 2 standard deviations compared to their expected AH.

In the OPALE-Model study, the investigators want to collect data from a cohort of 496 CAH French patients, born between 1970 and 1991 with a known genotype. Using their age, sex, growth, disease, bone maturation and pubertal data, the investigators will build a model which allows to predict their AH using data available at 8 years of age. The growth charts built from this cohort have shown that currently used formula to calculate the predicted AH (Bayley-Pineau's formula) is not applicable to children with CAH.

In this project, the investigators plan to compute an AH prediction model using data from children born between 1970 and 1993, and to validate the model using data from a different cohort (i.e. children born between 1994 and 1998). this choice was due to availability of data for computing the model first, and in a second stage, data from more recently born patients.

Study Overview

• Status: Completed
• Conditions: Congenital Adrenal Hyperplasia
• Intervention / Treatment: Other: Collection of growth and bone maturation data

• Study Type: Observational
• Enrollment (Actual): 496

Contacts and Locations

Study Locations

• France
  • Lyon, France, 69500
    • Hospices Civils de Lyon

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 40 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adullts with Congenital Adrenal Hyperplasia

Description

Inclusion Criteria:

• children with CAH, genetically proven, classical form, virilizing form, with deficit of 21 hydroxylase, 11 beta hydroxylase, or 3 beta ol dehydrogenase, born between 1972-1993 (cohort 1) and 1994-1998 (cohort 2).
• medical charts should be available.

Exclusion Criteria:

• Patients with chronic growth altering disease, Turner syndrome, or other genetic anomaly
• Patients having received any treatment with Growth Hormone (GH)

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
cohort for model computing; patients with CAH, born between 1970 and 1993, with genetically proven CAH, available growth and bone maturation data.	Other: Collection of growth and bone maturation data
cohort for model validation; patients with CAH, born between 1994 and 1998, with genetically proven CAH, available growth and bone maturation data.	Other: Collection of growth and bone maturation data

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Adult height (AH)	AH is defined as i) the height recorded after age 20 in boys or 18 in girls; ii) Or the height recorded when bone age is >= 18 years in boys and 16 years in girls; Or iii) the height measured after growth velocity dropped to <= 1 cm/year.	up to 18 years

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Study Chair: Catherine Cornu, MD, Hospices Civils de Lyon

Publications and helpful links

General Publications

• Bretones P, Riche B, Pichot E, David M, Roy P, Tardy V, Kassai B, Gaillard S, Bernoux D, Morel Y, Chatelain P, Nicolino M, Cornu C; French Collaborative CAH Growth Study Group. Growth curves for congenital adrenal hyperplasia from a national retrospective cohort. J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1379-1388. doi: 10.1515/jpem-2016-0156.

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2010
• Primary Completion (Actual): December 31, 2018
• Study Completion (Actual): December 31, 2018

Study Registration Dates

• First Submitted: May 11, 2017
• First Submitted That Met QC Criteria: May 19, 2017
• First Posted (Actual): May 22, 2017

Study Record Updates

• Last Update Posted (Actual): August 11, 2020
• Last Update Submitted That Met QC Criteria: August 10, 2020
• Last Verified: August 1, 2020

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: CE-CIC-GREN-09-19

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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