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5611: Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency

Status: Recruiting

Study 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.

Background

Congenital adrenal hyperplasia (CAH) is a genetic defect of the glands that produce hormones. The most common form of CAH is steroid 21-hydroxylase deficiency (21OHD). This study will look at bone health in CAH. Doctors want to learn how CAH and its treatment affect bones.

About this Study

Doctors will compare people who have CAH to people who do not have CAH. If you take part in this study, you will only need to come in for one office visit. About 40 people (20 with 21OHD and 20 without 21OHD) will be enrolled over a 2 year period. If you decide to take part, your medical records will be looked at and you will be evaluated by the following:

  • Blood draws
  • Bone density scan of your lower back, hip, and forearm
  • Physical exam
  • Body fat measurement

Targeted Enrollment

To be eligible to participate, you must:

If you have CAH

  • Have a genetic test showing that you have 21OHD
  • Have been getting treatment with steroid hormones since your first year of life
  • Have hormonal and treatment records for the past 5 years
  • Be female
  • Be 20-35 years of age
  • Not reached menopause (when your menstrual cycles stop)

If you do not have CAH

  • Have a genetic test showing that you do not have 21OHD
  • Not have a relative in this study who has 21OHD
  • Be female
  • Be 20-35 years of age
  • Not reached menopause (when your menstrual cycles stop)

You are not eligible to participate if:

  • You have a health disorder or if you are taking medications known to affect bone mass
  • You are pregnant
  • You are a smoker within the past 6 months
  • You have a heart pacemaker or other implanted electronic medical device

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.

  • 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