Recruiting

Observational Study

Sponsor:

Office of Rare Diseases (ORD)

Code:

NCT00694525

Conditions

Adrenal Hyperplasia, Congenital

Eligibility Criteria

Sex: Female

Age: 20 - 35

Healthy Volunteers: Accepted

Study Details

Brief summary:

21-hydroxylase deficiency (21-OHD) is an inherited disorder that results from a mutation on the CYP21A2 gene. It affects the adrenal glands and is the most common cause of congenital adrenal hyperplasia (CAH). 21-OHD CAH causes the body to produce an insufficient amount of cortisol and an excess of androgen, the type of hormone that produces male characteristics. The primary treatment for 21-OHD CAH, glucocorticoid replacement therapy, has been shown to cause bone loss. However, the elevated hormone levels caused by 21-OHD CAH may increase production of the protein osteoprotegerin (OPG), which in turn may protect against bone loss. This study will compare bone density and OPG levels in women who have 21-OHD CAH and have undergone a lifetime of glucocorticoid replacement therapy to that in women who have neither of these criteria. In doing so, the study will aim to determine the relationship between OPG and bone loss.

Conditions

Adrenal Hyperplasia, Congenital

Study ID

NCT00694525

Start date

Apr, 2008

Status verified date

Jun, 2009

Completion date

Jun, 2009

Anticipated

Primary completion date

Jun, 2009

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 20 - 35

Healthy Volunteers: Accepted

Inclusion Criteria:

For People with 21-OHD CAH:

  • 21-OHD CAH has been documented by molecular genetic analysis (mutations on CYP21A2 gene on both parental alleles)
  • Treatment with glucocorticoid replacement since infancy (begun within the first year)
  • Available hormonal data and treatment details over the 5 years prior to study entry
  • Premenopausal

For Healthy Controls:

  • No diagnosis of 21-OHD CAH, as confirmed by molecular genetic analysis
  • No first degree relative is enrolled as a 21-OHD CAHparticipant
  • Premenopausal

Exclusion Criteria:

  • Medical disorder or treatment with medications known to affect bone density (other than glucocorticoids for 21-OHD CAH patients), including, but not limited to growth hormone, IGF-I, depo-medroxyprogesterone acetate, biphosphonates, oral contraceptives, androgens, thyroxine, or aromatase inhibitors
  • Pregnant
  • Any smoking within the 6 months prior to study entry
  • Cardiac pacemaker or other implanted electronic medical device

Study Design

Enrollment

40 participants

Anticipated

Interventions and Outcome Measures

Arms

1

Women in this group will have 21-OHD CAH.

2

Women in this group will be healthy controls and will not have 21-OHD CAH.

Primary outcome measure

  • Comparison of levels of OPG [ Time Frame: Measured throughout the study ]

Central Contacts and Locations

Central contacts

Karen Lin Su, MD

212-241-7847karen.su@mssm.edu

Locations

Mount Sinai School of Medicine

Recruiting

New York, New York, United States, 10029

Principal Investigator:

Karen Lin Su, MD

More Information

Sponsor

Office of Rare Diseases (ORD)

Last update posted

Jun 2, 2009

Last verified

Jun, 2009

Keywords

  • 21OHD
  • 21-hydroxylase deficiency
  • CAH

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Office of Rare Diseases (ORD) on 2009-06-02.