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Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00694525
Recruitment Status : Unknown
Verified June 2009 by Office of Rare Diseases (ORD).
Recruitment status was:  Recruiting
First Posted : June 10, 2008
Last Update Posted : June 2, 2009
Information provided by:
Office of Rare Diseases (ORD)

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.

Condition or disease
Adrenal Hyperplasia, Congenital

Detailed Description:

Because of the excess of androgen caused by 21-OHD CAH, women with CAH may exhibit some male-like characteristics. Glucocorticoids are a member of a class of drugs called corticosteroids, which are used in hormone replacement therapy. In order to counteract the effects of 21-OHD CAH, women with the disease are given hormone replacement therapy with glucocorticoids beginning at infancy. Glucocorticoids are known to cause bone loss. Despite many years of treatment with glucocorticoids, however, young women with 21-OHD CAH seem to be protected against bone loss. Researchers believe that the increased androgen levels in these women leads to increased estrogen levels, which in turn increases OPG production. The increase in OPG levels may protect women against bone loss. This study will evaluate bone density and OPG levels in women with and without 21-OHD CAH to determine the relationship between OPG and bone loss.

Participants in this observational study will attend only one study visit. At this visit, they will undergo a blood draw; a scan of their lower spine, hip, and forearm; height and weight measurements; and a body fat analysis test. This last test will entail a weak and painless electrical signal being sent from foot to foot. Participants will not attend any follow-up visits for this study.

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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency
Study Start Date : April 2008
Estimated Primary Completion Date : June 2009
Estimated Study Completion Date : June 2009

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

Primary Outcome Measures :
  1. Comparison of levels of OPG [ Time Frame: Measured throughout the study ]

Secondary Outcome Measures :
  1. Comparison of bone mineral density [ Time Frame: Measured throughout the study ]

Biospecimen Retention:   Samples With DNA
With participant's permission, 5 mL of blood will be stored for potential new blood markers in the future.

Information from the National Library of Medicine

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Ages Eligible for Study:   20 Years to 35 Years   (Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Premenopausal women between the ages of 20 and 35 who have 21-OHD CAH or do not have 21-OHD CAH.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00694525

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Contact: Karen Lin Su, MD 212-241-7847

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United States, New York
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Principal Investigator: Karen Lin Su, MD         
Sub-Investigator: Maria I. New, MD         
Sub-Investigator: Saroj Nimkarn, MD         
Sub-Investigator: Mone Zaidi, MD, PhD         
Sub-Investigator: Henry Bone, MD         
Sponsors and Collaborators
Office of Rare Diseases (ORD)
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Study Chair: Karen Lin Su, MD Icahn School of Medicine at Mount Sinai

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Responsible Party: Maria I. New, MD, Mount Sinai School of Medicine Identifier: NCT00694525    
Other Study ID Numbers: RDCRN 5611
First Posted: June 10, 2008    Key Record Dates
Last Update Posted: June 2, 2009
Last Verified: June 2009
Keywords provided by Office of Rare Diseases (ORD):
21-hydroxylase deficiency
Additional relevant MeSH terms:
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Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenocortical Hyperfunction
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders