Adult Height Prediction in Congenital Adrenal Hyperplasia

NCT03162159 | Completed

• 1 other identifier: CE-CIC-GREN-09-19
• Study Type: observational
• Target: 496
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Congenital Adrenal Hyperplasia

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

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

Interventions

Collection of growth and bone maturation data OTHER

cohort for model computing; cohort for model validation

Eligibility Criteria

• Age: 18 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Adullts with Congenital Adrenal Hyperplasia

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hospices Civils de Lyon

Lyon, 69500, France

Location

Related Publications (1)

• 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.

  PMID: 27852974 BACKGROUND

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

• Catherine Cornu, MD

  Hospices Civils de Lyon

  STUDY CHAIR

Study Design

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

Study Record Dates

• First Submitted: May 11, 2017
• First Posted: May 22, 2017
• Study Start: September 1, 2010
• Primary Completion: December 31, 2018
• Study Completion: December 31, 2018
• Last Updated: August 11, 2020

Record last verified: 2020-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)