Registre HEAR, Healthcare European Amyloidosis Registry

This is a non-interventional, prospective, retrospective, non-comparative, multi-center study.

In order not to interfere with patient management, the study is observational. Thus, no follow-up visit is imposed. The data collection will be limited to the data related to the management of the patients included throughout their follow-up.

This study is intended for all patients with a confirmed or suspected diagnosis of cardiac amyloidosis. Three cohorts will be identified: the HEAR (Healthcare European Amyloidosis Registry)-Retrospective Cohort, the HEAR(Healthcare European Amyloidosis Registry)-Retrospective-Prospective Cohort and the HEAR (Healthcare European Amyloidosis Registry)-Prospective Cohort.

Study Overview

• Status: Recruiting
• Conditions: Cardiac Amyloidosis

Detailed Description

Amyloidosis is a rare disease characterized by infiltration and continuous accumulation of insoluble fibrillar proteins in the extracellular matrix in various organs including kidney, nerve, liver, heart and skeletal muscle. Its prevalence is estimated at 0.5-1.3/100,000. The main forms are:

1. Primary amyloidosis is caused by deposits of monoclonal immunoglobulin light chains produced by a plasma cell clone in the bone marrow.
2. Hereditary (familial) amyloidosis, the major form of which is mutated transthyretin amyloidosis of autosomal dominant transmission. More than 100 different mutations of transthyretin are known and several mutations have been described as amyloidogenic.
3. Systemic senile amyloidosis which is due to deposits of wild-type (unmutated) transthyretin.
4. AA amyloidosis of chronic inflammatory causes.
5. Localized amyloidosis. They are in the vast majority of cases primary amyloidosis (or immunoglobulinic) amyloidosis. The deposition of amyloidosis formed by light chains of antibodies occurs here in contact with a proliferation of plasma cells located in a particular organ. There is no passage of the immunoglobulin light chain into the bloodstream and therefore deposits do not form remotely in other organs.
6. Rare amyloidoses. The prognosis of the disease is most often related to the cardiac involvement. Unfortunately, its diagnosis is often delayed, which worsens the prognosis. This delay is linked to the absence of simple diagnostic tools (biomarkers, imaging, etc.) allowing early diagnosis of the disease. The absence of early diagnostic tools, the heterogeneity of the expression (multi-systemic) of this disease and the difficulty of its management lead to delays in diagnosis and non-management of certain organ disorders, which have an impact on the quality of life of patients.

There is a strong need to help physicians better characterize the clinical and biological presentations of the disease and to improve diagnostic tools and standardize therapeutic management.

All data collected for the study are key, routine data for the condition, readily available in the patients' medical records. It is also possible to use additional and specific computerized tools to collect these data, within the participating expert centers.

Data will be recorded in an electronic observation book.

• Study Type: Observational
• Enrollment (Anticipated): 5000

Contacts and Locations

• Study Contact: Name: Mounira Kharoubi; Phone Number: +33650029257; Email: mounira.kharoubi@gmail.com
• Study Contact Backup: Name: Rébecca Gene; Phone Number: +33628274249; Email: rebecca.gene@gmail.com

Study Locations

• France
  • Créteil, France, 94000
    • Recruiting
    • Hopital Henri Mondor
    • Contact: Mounira Kharoubi; Phone Number: +33650029257; Email: mounira.kharoubi@gmail.com
    • Principal Investigator: Thibaud Damy

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

This study is intended for all patients with a confirmed or suspected diagnosis of cardiac amyloidosis.

Description

INCLUSION CRITERIA

1. Patients must meet all of the following inclusion criteria to be included in the study:

   • Major patient
   • Protected adult patient (guardianship or curatorship)

2. Prospective Cohort:

   Patients referred or who have been referred to the participating centre for suspected amyloidosis.

   Patient who signed the patient information "Prospective Cohort" note

3. Retro-prospective Cohort:

   Patient already followed in the center with a confirmed diagnosis of amyloidosis Patient who signed the "retro-prospective cohort" patient information note

4. Retrospective cohort:

Deceased patients followed in the center with a confirmed diagnosis of amyloidosis

Study participants will not be compensated for their participation

EXCLUSION CRITERIA The patient has expressed his/her refusal to participate Participation in another study, even an interventional one, is not a criterion for non-inclusion.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
HEAR(Healthcare European Amyloidosis Registry)-Retrospective Cohort; Retrospective collection of deceased patients data with inclusion criteria
HEAR(Healthcare European Amyloidosis Registry)-Retrospective-Prospective Cohort; Retrospective and prospective collection of patient data and real-life follow-up of patients from the date of inclusion Living patients who met the inclusion criteria
HEAR(Healthcare European Amyloidosis Registry)-Prospective Cohort; Prospective data collection and real-life follow-up of patients from the date of inclusion These patients are either newly followed in the centre with the inclusion criteria

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The clinical, biological and imaging characteristics of patients with cardiac amyloidosis	Describe the clinical, biological and imaging characteristics of patients with cardiac amyloidosis.	6 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
he prevalence and incidence of the different types of amyloidosis and their evolution.	To estimate the prevalence and incidence of the different types of amyloidosis and their evolution.	6 years
The therapeutic management (cardiological and specific), their beneficial and secondary effects.	Describe the therapeutic management (cardiological and specific), their beneficial and secondary effects.	6 years

Collaborators and Investigators

• Sponsor: Saving Lives Matters
• Investigators: Principal Investigator: Thibaud Pr Damy, Henri Mondor University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): June 29, 2021
• Primary Completion (Anticipated): June 30, 2027
• Study Completion (Anticipated): December 31, 2027

Study Registration Dates

• First Submitted: October 5, 2021
• First Submitted That Met QC Criteria: October 19, 2021
• First Posted (Actual): November 1, 2021

Study Record Updates

• Last Update Posted (Actual): November 1, 2021
• Last Update Submitted That Met QC Criteria: October 19, 2021
• Last Verified: October 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Proteostasis Deficiencies; Amyloidosis
• Other Study ID Numbers: HR01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No