French National Registry of Bone Marrow Failures (RIME)

Assistance Publique - Hôpitaux de Paris

Status

Enrolling

Conditions

Bone Marrow Failure Syndrome

Treatments

Other: Bone Marrow Failure

Study type

Observational

Funder types

Other

Identifiers

NCT04781790

NI17045J

Details and patient eligibility

About

This is a unique clinical and biological database that collects standardized clinical information during the management of all patients with bone marrow failure syndromes (BMF) in France (multicenter registry), from diagnosis and throughout follow-up during the natural history of the disease, treated or not. In parallel, biological samples (blood and/or bone marrow and/or skin) are collected during clinical care and are biobanked in Saint-Louis Hospital (Hematology laboratory) in order to be used in translational research related to bone marrow failure diseases.

This registry has two main objectives:

Public health care evaluation and improvement: to assess the medical and social needs inherent to the management of these rare diseases; to precisely assess the level of diagnosis and management of bone marrow failure syndromes in France; to evaluate the impact and guidance of the French reference center guidelines for diagnosis and treatment; to evaluate the real-life efficacy and tolerance of any given specific treatments; to analyze treatment's cost-effectiveness according to each situation.
Research:
- Epidemiology: to determine the incidence, prevalence, and distribution of different bone marrow failure syndromes at the national level;
- Biology: to better understand the pathophysiology of BMF; to identify and to study complications within each entity, such as mechanisms underlying clonal evolution, new forms of inherited BMF and acute myeloid leukemia (AML)/MDS-predisposition syndromes, and to better and deeper characterize known entities;
- Treatment: to identify prognostic factors and predictors of response; to identify side effects and impact of treatment on others organs and natural functions; to assess patients' quality of life as early as possible since diagnosis and throughout follow-up.

Enrollment

5,000 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

All age
All diagnostic of BMF
Having given his non-opposition to registry after understand overall aims
Having signed a written informed consent (2 parents for patients aged less than 18) for collection of biological samples
With health insurance coverage

Exclusion criteria

With myelodysplastic syndrome occurring in a patient over the age of 50 in absence of genetical predispositions, familial forms and history of medullary hypoplasia