Adult Height Prediction in Congenital Adrenal Hyperplasia (OPALE Model)

Civil Hospices of Lyon

Status: Completed

Conditions: Congenital Adrenal Hyperplasia

Treatments: Other: Collection of growth and bone maturation data

Study type: Observational

Funder types: Other

Identifiers

NCT03162159

CE-CIC-GREN-09-19

Details and patient eligibility

About

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.

Enrollment: 496 patients

Sex: All

Ages: 18 to 40 years old

Volunteers: No Healthy Volunteers

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)

Trial design

496 participants in 2 patient groups

cohort for model computing

Description:

patients with CAH, born between 1970 and 1993, with genetically proven CAH, available growth and bone maturation data.

Treatment:

Other: Collection of growth and bone maturation data

cohort for model validation

Description:

patients with CAH, born between 1994 and 1998, with genetically proven CAH, available growth and bone maturation data.

Treatment:

Other: Collection of growth and bone maturation data