Natural History of Apparent Mineralocorticoid Excess Syndrome

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2008 by Office of Rare Diseases (ORD).
Recruitment status was  Recruiting
Rare Diseases Clinical Research Network
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: May 16, 2007
Last updated: December 8, 2008
Last verified: December 2008
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
Official Title: Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Biospecimen Retention:   Samples With DNA
Peripheral blood

Estimated Enrollment: 130
Study Start Date: April 2007
Estimated Study Completion Date: November 2013
Estimated 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:   up to 80 Years
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00474942

Contact: Claire Gilbert 212-241-7099

United States, New York
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Principal Investigator: Maria I. New, MD         
Principal Investigator: Karen Lin-Su, MD         
Principal Investigator: Madeleine Harbison, MD         
Principal Investigator: Robert Wilson, PhD         
Principal Investigator: Saroj Nimkarn, MD         
United States, Texas
University of Texas Southwestern Medical Center Not yet recruiting
Dallas, Texas, United States, 75390
Principal Investigator: Richard J. Auchus, MD, PhD         
Principal Investigator: Jean D. Wilson, MD         
University of Sao Paulo Not yet recruiting
Sao Paulo, Brazil, 01060-970
Principal Investigator: Berenice Mendonca, MD         
Principal Investigator: Ivo Arnhold, MD         
University of Lyon Not yet recruiting
Lyon, France, 69322
Principal Investigator: Pierre Chatelain, MD         
Principal Investigator: Maguelone Forest, MD, PhD         
Sponsors and Collaborators
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Principal Investigator: Maria I. New, MD Icahn School of Medicine at Mount Sinai
  More Information

Responsible Party: Maria I. New, MD, Mount Sinai School of Medicine Identifier: NCT00474942     History of Changes
Other Study ID Numbers: RDCRN 5601
Study First Received: May 16, 2007
Last Updated: December 8, 2008
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Metabolic Alkalosis

Additional relevant MeSH terms:
Mineralocorticoid Excess Syndrome, Apparent
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Pathologic Processes
Steroid Metabolism, Inborn Errors
Hormones, Hormone Substitutes, and Hormone Antagonists
Pharmacologic Actions
Physiological Effects of Drugs processed this record on November 25, 2015