Apparent Mineralocorticoid Excess SyndromeNCT00474942
Natural History of Apparent Mineralocorticoid Excess Syndrome
An observational study of Apparent Mineralocorticoid Excess Syndrome, run by Icahn School of Medicine at Mount Sinai at 4 sites in 3 countries.
Trial summary
Apparent mineralocorticoid excess (AME) is a rare inherited disease that can cause severe high blood pressure and low blood potassium in children and adults. It is caused by abnormal hormone metabolism and can be fatal. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Apparent Mineralocorticoid Excess Syndrome
- How many people
- 130 participants
- Where
- 4 sitesin 3 countries
- Study dates
- Apr 2007to Nov 2013
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with apparent mineralocorticoid excess plus their family members
Who may be able to join
- High blood pressure characterized by low plasma renin and serum aldosterone levels
- Elevated urinary cortisol/cortisone metabolite ratio ([THF + 5aTHF]/THE)
- Molecular genetic diagnosis of AME with two mutations of the HSD11B2 gene
- Inclusion Criteria for Family Members without Genetic Diagnosis of AME:
- Carrier of the HSD11B2 mutation that the AME participant has
Who cannot join
- Any other illness or condition that might interfere with study participation
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
United States2 sites
University of Texas Southwestern Medical Center
Dallas, Texas, 75390
Mount Sinai School of Medicine
New York, New York, 10029
About this study
Official title: Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol
Apparent mineralocorticoid excess (AME) is a rare inherited disease that can cause severe high blood pressure and low blood potassium in children and adults. It is caused by abnormal hormone metabolism and can be fatal. This study will focus on the genetic basis, natural history, disease progression, and survival of people with AME.
Read the detailed description
AME is a rare genetic disorder that is caused by a mutated HSD11B2 gene, which encodes the metabolic enzyme 11BHSD2. The altered gene interferes with the ability of 11BHSD2 to inactivate the hormone cortisol. Above-normal cortisol activity then leads to a rise in blood pressure and a reduction of potassium in the blood. It also leads to low levels of the enzyme renin and the hormone aldosterone, both of which are involved in the regulation of long-term blood pressure. Long-term high blood pressure and metabolic defects start at an early age in children with severe AME. In others, AME may start later in life and cause less serious side effects. Symptoms can include poor growth in childhood, delayed puberty, muscle weakness, heart rate irregularity, frequent urination, and thirst. If left untreated, AME can cause serious damage to the eyes, kidneys, heart, and other organs.
Current treatment with the synthetic steroid spironolactone usually improves symptoms; however, despite treatment, some individuals with AME still experience disease progression and even death within years of being diagnosed with AME. Understanding more about AME, how it progresses, and how it affects people differently may help to improve treatment options. The purpose of this study is to examine the genetic basis, natural history, disease progression, and outcome of children and adults with AME. The study will also examine the family members of study participants with AME for any genetic abnormalities and possible mild forms of AME.
This study will last 2 to 7 years. Participants and their family members will attend yearly study visits that will include interviews about medical history, symptoms, and hospital stays; a physical exam; blood pressure testing; and blood and urine collection. Interim reviews of medical records will occur as necessary. Children will undergo an x-ray of the left hand. During the initial study visit, participants will be asked questions about family members and birth size.
- Keywords
- Hypertension, Metabolic Alkalosis, Hypokalemia
- Medical subject headings
- Mineralocorticoid Excess Syndrome, Apparent, Hypertension, Hypokalemia
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 May 2007 (estimated)
- Study startApr 2007
- Primary completionNov 2013
- Study completionNov 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Apparent Mineralocorticoid Excess SyndromeStudies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 130 participants (actual)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- Maria I. New, MD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00474942
- Sponsor's protocol ID
- GCO 04-0474
- Other IDs
- U54HD064382, RDCRN 5601
- Status last verified
- Dec 2015
- First submitted
- 16 May 2007
- Last updated
- 11 Dec 2015
- Results posted
- No
- Data monitoring committee
- Yes
Publications
New MI, Geller DS, Fallo F, Wilson RC. Monogenic low renin hypertension. Trends Endocrinol Metab. 2005 Apr;16(3):92-7. doi: 10.1016/j.tem.2005.02.011.
PubMed 15808805Palermo M, Quinkler M, Stewart PM. Apparent mineralocorticoid excess syndrome: an overview. Arq Bras Endocrinol Metabol. 2004 Oct;48(5):687-96. doi: 10.1590/s0004-27302004000500015. Epub 2005 Mar 7.
PubMed 15761540Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, DeSilva V, Taylor NF, Hala S, Rajendra N, Stewart PM. Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):143-9. doi: 10.1016/j.mce.2003.10.019.
PubMed 15134813
Study at a glance
From the registry record, last updated by the sponsor on 11 Dec 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol
- ClinicalTrials.gov ID
- NCT00474942
- Acronym / sponsor ID
- GCO 04-0474
- Keywords
- Hypertension, Metabolic Alkalosis, Hypokalemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 130 participants (actual)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- Apr 2007
- Primary completion
- Nov 2013 (actual)
- Study completion
- Nov 2013 (actual)
- First posted
- 17 May 2007 (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.
Apparent mineralocorticoid excess (AME) is a rare inherited disease that can cause severe high blood pressure and low blood potassium in children and adults. It is caused by abnormal hormone metabolism and can be fatal. This study will focus on the genetic basis, natural history, disease progression, and survival of people with AME.
Detailed description
AME is a rare genetic disorder that is caused by a mutated HSD11B2 gene, which encodes the metabolic enzyme 11BHSD2. The altered gene interferes with the ability of 11BHSD2 to inactivate the hormone cortisol. Above-normal cortisol activity then leads to a rise in blood pressure and a reduction of potassium in the blood. It also leads to low levels of the enzyme renin and the hormone aldosterone, both of which are involved in the regulation of long-term blood pressure. Long-term high blood pressure and metabolic defects start at an early age in children with severe AME. In others, AME may start later in life and cause less serious side effects. Symptoms can include poor growth in childhood, delayed puberty, muscle weakness, heart rate irregularity, frequent urination, and thirst. If left untreated, AME can cause serious damage to the eyes, kidneys, heart, and other organs.
Current treatment with the synthetic steroid spironolactone usually improves symptoms; however, despite treatment, some individuals with AME still experience disease progression and even death within years of being diagnosed with AME. Understanding more about AME, how it progresses, and how it affects people differently may help to improve treatment options. The purpose of this study is to examine the genetic basis, natural history, disease progression, and outcome of children and adults with AME. The study will also examine the family members of study participants with AME for any genetic abnormalities and possible mild forms of AME.
This study will last 2 to 7 years. Participants and their family members will attend yearly study visits that will include interviews about medical history, symptoms, and hospital stays; a physical exam; blood pressure testing; and blood and urine collection. Interim reviews of medical records will occur as necessary. Children will undergo an x-ray of the left hand. During the initial study visit, participants will be asked questions about family members and birth size.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with apparent mineralocorticoid excess plus their family members
Key inclusion criteria (5 listed)
- High blood pressure characterized by low plasma renin and serum aldosterone levels
- Elevated urinary cortisol/cortisone metabolite ratio ([THF + 5aTHF]/THE)
- Molecular genetic diagnosis of AME with two mutations of the HSD11B2 gene
- Carrier of the HSD11B2 mutation that the AME participant has
Key exclusion criteria (1 listed)
- Any other illness or condition that might interfere with study participation
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
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Dec 2015.
- Background: PubMed 15808805New MI, Geller DS, Fallo F, Wilson RC. Monogenic low renin hypertension. Trends Endocrinol Metab. 2005 Apr;16(3):92-7. doi: 10.1016/j.tem.2005.02.011.
- Background: PubMed 15761540Palermo M, Quinkler M, Stewart PM. Apparent mineralocorticoid excess syndrome: an overview. Arq Bras Endocrinol Metabol. 2004 Oct;48(5):687-96. doi: 10.1590/s0004-27302004000500015. Epub 2005 Mar 7.
- Background: PubMed 15134813Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, DeSilva V, Taylor NF, Hala S, Rajendra N, Stewart PM. Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):143-9. doi: 10.1016/j.mce.2003.10.019.
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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.
Maria I. New, MD principal investigator
Icahn School of Medicine at Mount Sinai
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Apparent Mineralocorticoid Excess Syndrome, run by Icahn School of Medicine at Mount Sinai at 4 sites in 3 countries.
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 5 inclusion and 1 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: finished, as of the sponsor's last update on 11 Dec 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Brazil, France. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00474942, which also lists 3 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 11 Dec 2015.