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Cardiovascular Evaluation of Adult PHA 1 Patients (PHACARV)

This study has been completed.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: February 28, 2008
Last updated: January 18, 2012
Last verified: July 2010
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.

Pseudohypoaldosteronism Type 1

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Cardiac or vascular abnormality at ultrasound or NMR evaluation [ Time Frame: day one ]

Secondary Outcome Measures:
  • Extracellular volume, biology, autonomic nervous system abnormality [ Time Frame: day one + day two ]
  • New gene responsible for PHA1 [ Time Frame: day one ]

Enrollment: 98
Study Start Date: May 2008
Study Completion Date: May 2011
Primary Completion Date: May 2011 (Final data collection date for primary outcome measure)
without PHA1
patients without mineralocorticoid receptor mutation
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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
patient with Pseudohypoaldosteronism type 1 and the family of these patient who dont have mineralocorticoid receptor mutation

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
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Please refer to this study by its identifier: NCT00646828

Hôpital Bichat
Paris, France, 75018
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Brigitte ESCOUBET, MD Assistance Publique - Hôpitaux de Paris
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT00646828     History of Changes
Other Study ID Numbers: P070139
Study First Received: February 28, 2008
Last Updated: January 18, 2012

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Pseudohypoaldosteronism type 1
Mineralocorticoid receptor
Cardiovascular disease

Additional relevant MeSH terms:
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs processed this record on May 25, 2017