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

NCT00694525 | Unknown

• 1 other identifier: RDCRN 5611
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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

Keywords

21OHD; 21-hydroxylase deficiency; CAH

Outcome Measures

Primary Outcomes (1)

• Comparison of levels of OPG

  Measured throughout the study

Secondary Outcomes (1)

• Comparison of bone mineral density

  Measured throughout the study

Study Arms (2)

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.

Eligibility Criteria

• Age: 20 Years - 35 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• For People with 21-OHD CAH:
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Office of Rare Diseases (ORD): lead

Study Sites (1)

Mount Sinai School of Medicine

New York, New York, 10029, United States

RECRUITING

Related Publications (5)

• Canalis E, Bilezikian JP, Angeli A, Giustina A. Perspectives on glucocorticoid-induced osteoporosis. Bone. 2004 Apr;34(4):593-8. doi: 10.1016/j.bone.2003.11.026. No abstract available.

  PMID: 15050888 BACKGROUND

• Paganini C, Radetti G, Livieri C, Braga V, Migliavacca D, Adami S. Height, bone mineral density and bone markers in congenital adrenal hyperplasia. Horm Res. 2000;54(4):164-8. doi: 10.1159/000053253.

  PMID: 11416232 BACKGROUND

• King JA, Wisniewski AB, Bankowski BJ, Carson KA, Zacur HA, Migeon CJ. Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2006 Mar;91(3):865-9. doi: 10.1210/jc.2005-0745. Epub 2005 Nov 8.

  PMID: 16278269 BACKGROUND

• Kudlacek S, Schneider B, Woloszczuk W, Pietschmann P, Willvonseder R; Austrian Study Group on Normative Values of Bone Metabolism. Serum levels of osteoprotegerin increase with age in a healthy adult population. Bone. 2003 Jun;32(6):681-6. doi: 10.1016/s8756-3282(03)00090-5.

  PMID: 12810175 BACKGROUND

• Hagenfeldt K, Martin Ritzen E, Ringertz H, Helleday J, Carlstrom K. Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy. Eur J Endocrinol. 2000 Nov;143(5):667-71. doi: 10.1530/eje.0.1430667.

  PMID: 11078991 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital; Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

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

• Karen Lin Su, MD

  Icahn School of Medicine at Mount Sinai

  STUDY CHAIR

Central Study Contacts

Karen Lin Su, MD

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH

Study Record Dates

• First Submitted: June 6, 2008
• First Posted: June 10, 2008
• Study Start: April 1, 2008
• Primary Completion: June 1, 2009
• Study Completion: June 1, 2009
• Last Updated: June 2, 2009

Record last verified: 2009-06

Locations

US (1)