ClinicalTrials.gg
CompletedNCT00646828PHACARVUpdated Jan 19, 2012

Cardiovascular Evaluation of Adult PHA 1 Patients

An observational study in Pseudohypoaldosteronism Type 1, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2012-01-19.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Family-based
Time perspective
Cross-sectional
Enrollment
98
Ages
18 Years and older
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Pseudohypoaldosteronism Type 1

Keywords

  • Pseudohypoaldosteronism type 1
  • Mineralocorticoid receptor
  • Aldosterone
  • Cardiovascular disease
03

In context

Cardiovascular Diseases

5,025 studies on the registry are indexed under Cardiovascular Diseases; 930 are open to participants now.

This study's enrollment of 98 is below the median of 600 across 1,524 observational studies indexed under Cardiovascular Diseases.

Browse Cardiovascular Diseases studies →

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,578 studies on the registry; 1,030 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Age over 18
  • Male or female gender
  • Genotype in the PHA1.NET network

Exclusion criteria

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
05

Study design

Observational model
Family-based
Time perspective
Cross-sectional
Enrollment
98 participants (actual)

Groups and 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

06

What researchers measure

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

07

Study locations

1 site
  • Hôpital Bichat
    Paris, 75018, France
08

References and documents

Publications

  • Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. doi: 10.1002/humu.20371. PubMed 16972228 ↗
  • Sacre 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. PubMed 20506512 ↗
  • Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouenan C, Serfaty JM, Jeunemaitre X, Mentre F, Zennaro MC. Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet. 2013 Aug;6(4):381-90. doi: 10.1161/CIRCGENETICS.113.000115. Epub 2013 Jul 14. PubMed 23852419 ↗
09

Timeline

Tracking since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of May 2008, a primary completion of May 2011 and a completion of May 2011. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Feb 28, 2008
First posted
Mar 31, 2008
Start
May 2008
Primary completionActual
May 2011
CompletionActual
May 2011
Last update
Jan 19, 2012
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jan 19, 2012, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT00646828
Responsible party
Sponsor
First posted
Mar 31, 2008
Start date
May 2008
Primary completion
May 2011
Completion
May 2011
Last update
Jan 19, 2012

Study contacts

Brigitte ESCOUBET, MD
principal investigator · Assistance Publique - Hôpitaux de Paris

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2010. You cannot join it, but the record below documents what was studied.

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Start the discussion