Clinical trial NCT00646828: Cardiovascular Evaluation of Adult PHA 1 Patients
Official title: Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pseudohypoaldosteronism Type 1
Keywords: Pseudohypoaldosteronism type 1
Mineralocorticoid receptor
Aldosterone
Cardiovascular disease
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2008-03-31
Enrollment: 98
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: patient with Pseudohypoaldosteronism type 1 and the family of these patient who dont have mineralocorticoid receptor mutation

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.

Eligibility criteria: 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

Primary outcomes:
measure: Cardiac or vascular abnormality at ultrasound or NMR evaluation
timeFrame: day one
Secondary outcomes:
measure: Extracellular volume, biology, autonomic nervous system abnormality
timeFrame: day one + day two
measure: New gene responsible for PHA1
timeFrame: day one
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Bichat
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Brigitte ESCOUBET, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. doi: 10.1002/humu.20371.
citation: Sacre K, Brihaye B, Hyafil F, Serfaty JM, Escoubet B, Zennaro MC, Lidove O, Laissy JP, Papo T. Asymptomatic myocardial ischemic disease in antiphospholipid syndrome: a controlled cardiac magnetic resonance imaging study. Arthritis Rheum. 2010 Jul;62(7):2093-100. doi: 10.1002/art.27488.
citation: Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouenan C, Serfaty JM, Jeunemaitre X, Mentre F, Zennaro MC. Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet. 2013 Aug;6(4):381-90. doi: 10.1161/CIRCGENETICS.113.000115. Epub 2013 Jul 14.