Cardiovascular Evaluation of Adult PHA 1 Patients (PHACARV)
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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 |
- Cardiac or vascular abnormality at ultrasound or NMR evaluation [ Time Frame: day one ] [ Designated as safety issue: No ]
- 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 |
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
Contacts and Locations More Information
Publications:
| 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 Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn |
Metabolic Diseases Mineralocorticoids Hormones Hormones, Hormone Substitutes, and Hormone Antagonists Physiological Effects of Drugs Pharmacologic Actions |
ClinicalTrials.gov processed this record on May 22, 2013