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Natural History of Apparent Mineralocorticoid Excess Syndrome

NCT ID: NCT00474942

Last Updated: 2015-12-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

130 participants

Study Classification

OBSERVATIONAL

Study Start Date

2007-04-30

Study Completion Date

2013-11-30

Brief Summary

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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

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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.

Conditions

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Apparent Mineralocorticoid Excess Syndrome

Keywords

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Hypertension Metabolic Alkalosis Hypokalemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* Any other illness or condition that might interfere with study participation
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Office of Rare Diseases (ORD)

NIH

Sponsor Role collaborator

Rare Diseases Clinical Research Network

NETWORK

Sponsor Role collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

Sponsor Role collaborator

Icahn School of Medicine at Mount Sinai

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Maria I. New, MD

Role: PRINCIPAL_INVESTIGATOR

Icahn School of Medicine at Mount Sinai

Locations

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Mount Sinai School of Medicine

New York, New York, United States

Site Status

University of Texas Southwestern Medical Center

Dallas, Texas, United States

Site Status

University of Sao Paulo

São Paulo, , Brazil

Site Status

University of Lyon

Lyon, , France

Site Status

Countries

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United States Brazil France

References

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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.

Reference Type BACKGROUND
PMID: 15808805 (View on PubMed)

Palermo 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.

Reference Type BACKGROUND
PMID: 15761540 (View on PubMed)

Quinkler 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.

Reference Type BACKGROUND
PMID: 15134813 (View on PubMed)

Other Identifiers

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U54HD064382

Identifier Type: NIH

Identifier Source: secondary_id

View Link

RDCRN 5601

Identifier Type: OTHER

Identifier Source: secondary_id

GCO 04-0474

Identifier Type: -

Identifier Source: org_study_id