Rare Genetic Steroid Disorders Consortium

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5607: Modifier Genes in 21-Hydroxylase Deficiency

Status: recruiting

Summary:

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

This study has been designed to determine whether differences in other genes can modify the clinical course of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. To do so, we will bring patients with severe or “salt-wasting” 21-hydroxylase deficiency into the clinical research center and stop their hydrocortisone treatment for 48 hours under supervision. We will measure blood and urine steroids and other hormones at the end of the study. We will then determine if variations in these other genes influence to patterns of hormones produced.

Target Enrollment:

The participants to be recruited for the study will be adults (age 18 or over) with severe or “salt-wasting” 21-hydroxylase deficiency who have been well and taking a stable, moderate dose of hydrocortisone (not prednisone or dexamethasone) for the last 4 weeks. Patients will need to see a study physician in their clinic once.

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

University of Texas Southwestern Medical Center - Dallas, TX
Coordinator: Dr. Richard J. Auchus
E-mail: Richard.Auchus@UTSouthwestern.edu
Phone: 214-648-6751
Mt. Sinai School of Medicine (GSDC) - New York, New York
Principal Investigator: Maria New, MD
Contact: Claire Gilbert
E-mail: claire.gilbert@mssm.edu
Phone: 212-241-7099

Join the Contact Registry for: Congenital Adrenal Hyperplasia