Ignite Creation Date:
2024-05-05 @ 5:31 PM
Last Modification Date:
2024-10-26 @ 9:33 AM
Study NCT ID:
NCT00474942
Status:
COMPLETED
Last Update Posted:
2015-12-11
First Post:
2007-05-16
Brief Title:
Natural History of Apparent Mineralocorticoid Excess Syndrome
Sponsor:
Icahn School of Medicine at Mount Sinai
Organization:
Icahn School of Medicine at Mount Sinai
Study Overview
Official Title:
Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol
Status:
COMPLETED
Status Verified Date:
2015-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| U54HD064382 | NIH | None | None |
| RDCRN 5601 | OTHER | Office of Rare Diseases ORD | httpsreporternihgovquickSearchU54HD064382 |