Adrenal Hyperplasia, CongenitalNCT00694525
Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia
An observational study of Adrenal Hyperplasia, Congenital, run by Office of Rare Diseases (ORD) at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 20 to 35 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Adrenal Hyperplasia, Congenital
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2008to Jun 2009
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 35 years
- Women only
- Healthy volunteers accepted
- Adult
Study population: Premenopausal women between the ages of 20 and 35 who have 21-OHD CAH or do not have 21-OHD CAH.
Who may be able to join
- 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:
Show all 9Show fewer
- No diagnosis of 21-OHD CAH, as confirmed by molecular genetic analysis
- No first degree relative is enrolled as a 21-OHD CAHparticipant
- Premenopausal
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Mount Sinai School of Medicine
New York, New York, 10029
Karen Lin Su, MD
Maria I. New, MD
About this study
Official title: Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency
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.
Read the 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.
- Conditions
- Adrenal Hyperplasia, Congenital
- Keywords
- 21OHD, 21-hydroxylase deficiency, CAH
- Medical subject headings
- Adrenal Hyperplasia, Congenital, Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison of levels of OPG
Measured: Measured throughout the study
Secondary outcomes (1)
Comparison of bone mineral density
Measured: Measured throughout the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2008 (estimated)
- Study startApr 2008
- Primary completionJun 2009 (estimated)
- Study completionJun 2009 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Adrenal Hyperplasia, CongenitalStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Office of Rare Diseases (ORD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Karen Lin Su, MD, Study chair, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00694525
- Sponsor's protocol ID
- RDCRN 5611
- Status last verified
- Jun 2009
- First submitted
- 6 Jun 2008
- Last updated
- 2 Jun 2009
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 15050888Paganini 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.
PubMed 11416232King 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.
PubMed 16278269Kudlacek 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.
PubMed 12810175Hagenfeldt 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.
PubMed 11078991
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2009. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency
- ClinicalTrials.gov ID
- NCT00694525
- Acronym / sponsor ID
- RDCRN 5611
- Conditions
- Adrenal Hyperplasia, Congenital
- Keywords
- 21OHD, 21-hydroxylase deficiency, CAH
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Office of Rare Diseases (ORD)US National Institutes of Health
- Study start
- Apr 2008
- Primary completion
- Jun 2009 (estimated)
- Study completion
- Jun 2009 (estimated)
- First posted
- 10 Jun 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 20 to 35 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Premenopausal women between the ages of 20 and 35 who have 21-OHD CAH or do not have 21-OHD CAH.
Key inclusion criteria (9 listed)
- 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
- No diagnosis of 21-OHD CAH, as confirmed by molecular genetic analysis
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Comparison of levels of OPG
Time frame: Measured throughout the study
1 secondary outcome
Comparison of bone mineral density
Time frame: Measured throughout the study
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2009.
- Background: PubMed 15050888Canalis 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.
- Background: PubMed 11416232Paganini 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.
- Background: PubMed 16278269King 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.
- Background: PubMed 12810175Kudlacek 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.
- Background: PubMed 11078991Hagenfeldt 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Karen Lin Su, MD study chair
Icahn School of Medicine at Mount Sinai
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Adrenal Hyperplasia, Congenital, run by Office of Rare Diseases (ORD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 2 Jun 2009. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Karen Lin Su, MD (212-241-7847, karen.su@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Comparison of levels of OPG (time frame: Measured throughout the study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00694525, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jun 2009.