PHACARV: Cardiovascular Evaluation of Adult PHA 1 Patients
Study Details
Study Description
Brief 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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| 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 |
Outcome Measures
Primary Outcome Measures
- Cardiac or vascular abnormality at ultrasound or NMR evaluation [day one]
Secondary Outcome Measures
- Extracellular volume, biology, autonomic nervous system abnormality [day one + day two]
- New gene responsible for PHA1 [day one]
Eligibility Criteria
Criteria
Inclusion criteria:
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Age over 18
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Male or female gender
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Genotype in the PHA1.NET network
Exclusion criteria:
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Not membership to a regime of Social Security or to a CMU
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Against indication in the realization of a MRI
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Cardiac NMR not possible
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Known cardiovascular disease for person not carrying MR mutation
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Hôpital Bichat | Paris | France | 75018 |
Sponsors and Collaborators
- Assistance Publique - Hôpitaux de Paris
Investigators
- Principal Investigator: Brigitte ESCOUBET, MD, Assistance Publique - Hôpitaux de Paris
Study Documents (Full-Text)
None provided.More Information
Publications
- 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.
- 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.
- P070139