Clinical trial NCT04781790: French National Registry of Bone Marrow Failures
Official title: French National Registry of Bone Marrow Failures: Prospective and Retrospective Database Associated to a Collection of Biological Samples: RIME Project
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Bone Marrow Failure Syndrome
Keywords: aplastic anemia
Fanconi anemia
blackfan diamond anemia
telomeropathies
inherited aplastic anemia
acquired aplastic anemia
medullary hypoplasia
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-03-04
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with bone marrow failure syndromes (BMF)

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Prevalence of bone marrow failure
timeFrame: at 10 years
measure: Distribution of different bone marrow failure syndromes
timeFrame: at 10 years
Secondary outcomes:
measure: Quality of life assessed by EORTC QLQ-C30- v3 questionnaire
timeFrame: at inclusion
measure: Quality of life assessed by EORTC QLQ-C30- v3 questionnaire
timeFrame: at 10 years
measure: mechanisms underlying a clonal evolution or AML/MDS syndroms
timeFrame: at 10 years
measure: Proportion of patients with new forms of constitutional aplasias
timeFrame: at 10 years
measure: Proportion of patients with complications within each entity
timeFrame: at 10 years
measure: Prognostic factor ans treatment response
timeFrame: at 10 years
measure: Pathophysiology of bone marrow failures
timeFrame: at 10 years
measure: Global response to treatment
timeFrame: at 10 years
measure: Incidence and outcome of extra hematological complications including solid tumors, fertility
timeFrame: within 10 years
Other outcomes:
Locations:
city: Paris
country: France
facility: Hématologie Greffe
Study officials:
References: