Cardiovascular Evaluation of Adult PHA 1 Patients

Pseudohypoaldosteronism Type 1 Clinical Trial

— PHACARV  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00646828
• Other study ID #: P070139
• Status: Completed
• Phase: N/A
• First received: February 28, 2008
• Last updated: January 18, 2012
• Start date: May 2008
• Est. completion date: May 2011

Study information

• Verified date: July 2010
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 98
• Est. completion date: May 2011
• Est. primary completion date: May 2011
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Pseudohypoaldosteronism
• Pseudohypoaldosteronism Type 1

Locations

Country	Name	City	State
France	Hôpital Bichat	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (2)

Pujo L, Fagart J, Gary F, Papadimitriou DT, Claës A, Jeunemaître X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. — View Citation

Sacré 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Cardiac or vascular abnormality at ultrasound or NMR evaluation		day one	No
Secondary	Extracellular volume, biology, autonomic nervous system abnormality		day one + day two	No
Secondary	New gene responsible for PHA1		day one	No