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Trial record 1 of 3 for:    "Apparent mineralocorticoid excess"
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Natural History of Apparent Mineralocorticoid Excess Syndrome

This study has been completed.
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Icahn School of Medicine at Mount Sinai Identifier:
First received: May 16, 2007
Last updated: December 10, 2015
Last verified: December 2015
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.

Apparent Mineralocorticoid Excess Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol

Resource links provided by NLM:

Further study details as provided by Icahn School of Medicine at Mount Sinai:

Biospecimen Retention:   Samples With DNA
Peripheral blood

Enrollment: 130
Study Start Date: April 2007
Study Completion Date: November 2013
Primary Completion Date: November 2013 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with apparent mineralocorticoid excess plus their family members

Inclusion Criteria for Participants with AME:

  • 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

Exclusion Criteria for All Participants:

  • Any other illness or condition that might interfere with study participation
  Contacts and Locations
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Please refer to this study by its identifier: NCT00474942

United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
United States, Texas
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390
University of Sao Paulo
Sao Paulo, Brazil, 01060-970
University of Lyon
Lyon, France, 69322
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Maria I. New, MD Icahn School of Medicine at Mount Sinai
  More Information

Responsible Party: Icahn School of Medicine at Mount Sinai Identifier: NCT00474942     History of Changes
Other Study ID Numbers: GCO 04-0474
U54HD064382 ( US NIH Grant/Contract Award Number )
RDCRN 5601 ( Other Identifier: Office of Rare Diseases (ORD) )
Study First Received: May 16, 2007
Last Updated: December 10, 2015

Keywords provided by Icahn School of Medicine at Mount Sinai:
Metabolic Alkalosis

Additional relevant MeSH terms:
Mineralocorticoid Excess Syndrome, Apparent
Pathologic Processes
Adrenocortical Hyperfunction
Adrenal Gland Diseases
Endocrine System Diseases
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs processed this record on May 24, 2017