Pseudohypoaldosteronism Type 1 Clinical Trial
Official title:
Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1
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.
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.
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Observational Model: Family-Based, Time Perspective: Cross-Sectional
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT05687474 -
Baby Detect : Genomic Newborn Screening
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