Cardiovascular Evaluation of Adult PHA 1 Patients (PHACARV)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Pseudohypoaldosteronism Type 1

Study type: Observational

Funder types: Other

Identifiers

NCT00646828

P070139

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 98 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Age over 18
• Male or female gender
• Genotype in the PHA1.NET network

Exclusion criteria

• Not membership to a regime of Social Security or to a CMU
• Against indication in the realization of a MRI
• Cardiac NMR not possible
• Known cardiovascular disease for person not carrying MR mutation

Trial design

98 participants in 2 patient groups

without PHA1

Description:

patients without mineralocorticoid receptor mutation

PHA 1

Description:

patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor