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Completed

NCT Number: NCT00646828

Cardiovascular Evaluation of Adult PHA 1 Patients

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.

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Key information

Conditions

Pseudohypoaldosteronism Type 1 Cardiovascular Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Male Urogenital Diseases Pseudohypoaldosteronism Renal Tubular Transport, Inborn Errors Urogenital Diseases Urologic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Bichat

Paris, 75018, France

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Cardiac or vascular abnormality at ultrasound or NMR evaluation

    Time frame: day one

Secondary outcomes

  1. Extracellular volume, biology, autonomic nervous system abnormality

    Time frame: day one + day two

  2. New gene responsible for PHA1

    Time frame: day one

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

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

Acronym: PHACARV

Important dates

Study start
2008
Primary completion
2011
Study completion
2011
First posted
Mar 31, 2008
Registry last updated
Jan 19, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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