Clinical Trial: Cardiovascular Evaluation of Adult PHA 1 Patients
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1
Brief Summary: Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). The study aims at assessing vascular and cardiac alterations in adults with a chronic increase in circulating aldosterone without hypertension. The investigated population will be patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor.
Detailed Summary:
The study includes adult patients with mineralocorticoid receptor mutation as compared with not affected relatives. It includes also relatives of adult relative of patients with PHA1 in whom no mutation was found. Cardiovascular evaluation is conducted with cardiac and vascular ultrasound assessment and cardiac NMR, ambulatory blood pressure measurement.
Protocol duration is 2 days . Detailed genetic study is conducted in family without identified mutation in MINERALORECEPTOR.
Sponsor: Assistance Publique - Hôpitaux de Paris
Current Primary Outcome: Cardiac or vascular abnormality at ultrasound or NMR evaluation [ Time Frame: day one ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
- Extracellular volume, biology, autonomic nervous system abnormality [ Time Frame: day one + day two ]
- New gene responsible for PHA1 [ Time Frame: day one ]
Original Secondary Outcome: Extracellular volume, biology, autonomic nervous system abnormality [ Time Frame: day one + day two ]
Information By: Assistance Publique - Hôpitaux de Paris
Dates:
Date Received: February 28, 2008
Date Started: May 2008
Date Completion:
Last Updated: January 18, 2012
Last Verified: July 2010
