Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis

NCT02099214 | Completed

• 1 other identifier: 2013-A01843-42
• Study Type: interventional
• Target: 66
• Locations: 1 country
• Sites: 1

Brief Summary

Hereditary haemochromatosis (HHC) is a frequent disease in Brittany (5 to 7‰), responsible first for biological disorder in blood iron parameters and minor clinical disorders, before evolving to potential life-threatening consequences such as diabetes, liver cirrhosis and congestive heart failure. The improvement of screening and treatments made those severe affections rare enough not to evaluate myocardial iron overload a systematic part of the starting check-up. Nonetheless this myocardial iron overload might have severe implications on cardiac function on a long term basis. A single trial was conducted on limited number of patients with 1.5 Tesla MRI, which showed a myocardial iron overload (defined by a myocardium T2\* value \<20ms) in 19% of the subjects. The main objective of this study is to precisely estimate cardiac iron overload in treatment naive patients with newly diagnosed HFE hereditary haemochromatosis with a 3 Tesla MRI, more sensitive than the 1.5 Tesla one, in order to later appreciate its correlation with cardiac morbidity in HHC.

Conditions

Myocardial Iron Overload; HFE-Associated Hereditary Hemochromatosis

Keywords

myocardial iron overload; HFE-Associated Hereditary Hemochromatosis; 3 Tesla MRI; cardiological strategy in haemochromatosis; congestive heart failure

Outcome Measures

Primary Outcomes (1)

• Myocardial T2* values in haemochromatosis compared to healthy volunteers

  Assessment of the percentage rate of patients presenting a lower T2\* value than the baseline defined by the mean of T2\* values measured in healthy volunteers with a 1 standard deviation margin.

  Day 1

Secondary Outcomes (6)

• Mean T2 values in healthy volunteers and patients with HFE-related haemochromatosis

  Day 1

• Echocardiographic parameters of systolic and diastolic functions and myocardial deformation

  Day 1

• Myocardial T2 and T2* values in both groups

  Day 1

• Liver T2/T2* values

  Day 1

• Pancreas T2/T2* values

  Day 1

Study Arms (2)

Patients with HFE hereditary haemochromatosis

EXPERIMENTAL

The patients (40) will undergo a medical examination in order to analyse their medical history, cardiovascular parameters and check inclusion and non-inclusion criterions. Then will be performed : * An electrocardiogram * Blood tests : iron and cardiac markers (serum iron, serum transferrin, transferrin saturation, serum ferritin, NT-proBNP), beta-hCG if needed, serum bank * A 3Tesla cardiac MRI repeated twice (in order to respect the reproducibility criterion) * A 3Tesla abdominal MRI * An echocardiography at rest.

Device: 3Tesla cardiac MRI; Device: Electrocardiogram (EKG); Biological: Iron and cardiac markers; Biological: Pregnancy test; Device: Echocardiography at rest; Device: 3Tesla abdominal MRI

Healthy volunteers

EXPERIMENTAL

The healthy volunteers (10 men and 10 women) will undergo : * A urinary pregnancy test (if applicable) * A 3Tesla cardiac MRI repeated twice (in order to respect the reproducibility criterion) * An echocardiography at rest.

Device: 3Tesla cardiac MRI; Device: Echocardiography at rest; Biological: Urinary pregnancy test

Interventions

3Tesla cardiac MRI DEVICE

Healthy volunteers; Patients with HFE hereditary haemochromatosis

Electrocardiogram (EKG) DEVICE

Patients with HFE hereditary haemochromatosis

Iron and cardiac markers BIOLOGICAL

Serum iron, serum transferrin, transferrin saturation, serum ferritin, NT-proBNP

Patients with HFE hereditary haemochromatosis

Pregnancy test BIOLOGICAL

Beta-hCG

Patients with HFE hereditary haemochromatosis

Echocardiography at rest DEVICE

Transthoracic echocardiograph

Healthy volunteers; Patients with HFE hereditary haemochromatosis

Urinary pregnancy test BIOLOGICAL

Healthy volunteers

3Tesla abdominal MRI DEVICE

Patients with HFE hereditary haemochromatosis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients :
• Adults older than 18 ;
• Newly diagnosed with HFE hereditary haemochromatosis by genetic testing (homozygous for the C283Y mutation on HFE gene);
• Treatment-naive;
• Showing a ferritin level higher than 200µg/l for women and higher than 300µg/L for men;
• Affiliated to French Social Security;
• Having given a written informed consent.
• Healthy volunteers:
• Adults older than 18;
• Presenting all the following criterions:
• Normal cardiovascular physical examination: no signs of cardiac insufficiency, no pathological cardiac murmur, normal EKG (regular sinus rhythm, no high degree AV nor ventricular blocks, no rhythm anomaly),
• Body Mass Index \<27 kg/m²,
• Normal routine blood biology (blood count, MCV, serum iron, ferritin, transferrin saturation);
• Affiliated to French Social Security;
• Having given a written informed consent.

You may not qualify if:

• Patients :
• MRI-related criterions :
• Cardiac pacemaker or implanted defibrillator ;
• Non MRI-compatible prosthetic cardiac valve;
• Non MRI-compatible clips/stents/coils/etc.;
• Cochlear implant;
• Peripheral or neuronal stimulator;
• Intra-ocular or brain metallic foreign bodies , foreign body in the eyes' vicinity, shrapnel or firearm wound;
• Less than 4 weeks-old stents, less than 6 weeks-old osteosynthesis materials;
• Claustrophobia;
• Pumps, tattoos, permanent makeup, intrauterine device, patches;
• Non-removable metallic or magnetic material in the vicinity of the analysed field.
• Other criterions :
• Haemodynamic instability / Acute respiratory insufficiency / Altered general status / Need for continuous monitoring incompatible wih MRI confines;
• Pregnancy, breast feeding;

Sponsors & Collaborators

• Rennes University Hospital: lead

Study Sites (1)

Rennes University Hospital

Rennes, 35000, France

Location

MeSH Terms

Conditions

Heart Failure

Interventions

Electrocardiography; Iron; Pregnancy Tests

Condition Hierarchy (Ancestors)

Heart Diseases; Cardiovascular Diseases

Intervention Hierarchy (Ancestors)

Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Electrodiagnosis; Metals, Heavy; Elements; Inorganic Chemicals; Transition Elements; Metals; Clinical Laboratory Techniques; Diagnostic Techniques, Obstetrical and Gynecological; Investigative Techniques

Study Officials

• Erwan DONAL, MD, PhD

  Rennes University Hospital - Service de cardiologie et maladies vasculaires

  PRINCIPAL INVESTIGATOR

• Bruno LAVIOLLE, MD, PhD

  Rennes University Hospital

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 21, 2014
• First Posted: March 28, 2014
• Study Start: November 5, 2014
• Primary Completion: October 18, 2017
• Study Completion: October 18, 2017
• Last Updated: October 20, 2017

Record last verified: 2017-10

Locations

FR (1)