Trial record 3 of 4 for:    "pseudohypoaldosteronism type 2" OR "Pseudohypoaldosteronism"

Cardiovascular Evaluation of Adult PHA 1 Patients (PHACARV)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00646828
First received: February 28, 2008
Last updated: January 18, 2012
Last verified: July 2010
  Purpose

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.


Condition
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 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Extracellular volume, biology, autonomic nervous system abnormality [ Time Frame: day one + day two ] [ Designated as safety issue: No ]
  • New gene responsible for PHA1 [ Time Frame: day one ] [ Designated as safety issue: No ]

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)
Groups/Cohorts
without PHA1
patients without mineralocorticoid receptor mutation
PHA 1
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

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00646828

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

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

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

Additional relevant MeSH terms:
Pseudohypoaldosteronism
Genetic Diseases, Inborn
Kidney Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Urologic Diseases
Mineralocorticoids
Hormones
Hormones, Hormone Substitutes, and Hormone Antagonists
Pharmacologic Actions
Physiological Effects of Drugs

ClinicalTrials.gov processed this record on October 20, 2014