Cardiovascular Evaluation of Adult PHA 1 Patients

Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00646828

Acronym

PHACARV

Enrollment

Registered

2008-03-31

Start date

2008-05-31

Completion date

2011-05-31

Last updated

2012-01-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pseudohypoaldosteronism Type 1

Keywords

Pseudohypoaldosteronism type 1, Mineralocorticoid receptor, Aldosterone, Cardiovascular disease

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 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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame
Cardiac or vascular abnormality at ultrasound or NMR evaluation	day one

Secondary

Measure	Time frame
Extracellular volume, biology, autonomic nervous system abnormality	day one + day two
New gene responsible for PHA1	day one

Countries

France

Outcome results