MedPath

French National Registry of Bone Marrow Failures

Recruiting
Conditions
Bone Marrow Failure Syndrome
Interventions
Other: Bone Marrow Failure
Registration Number
NCT04781790
Lead Sponsor
Assistance Publique - Hôpitaux de Paris
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.

Detailed Description

Not available

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
5000
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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Patients with Bone marrow failureBone Marrow FailureStandard of care of patients with bone marrow failure
Primary Outcome Measures
NameTimeMethod
Prevalence of bone marrow failureat 10 years
Distribution of different bone marrow failure syndromesat 10 years
Secondary Outcome Measures
NameTimeMethod
Proportion of patients with new forms of constitutional aplasiasat 10 years
Pathophysiology of bone marrow failuresat 10 years
Prognostic factor ans treatment responseat 10 years
Incidence and outcome of extra hematological complications including solid tumors, fertilitywithin 10 years
Quality of life assessed by EORTC QLQ-C30- v3 questionnaireat 10 years

Quality of life evaluated using questionnaire "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire" (EORTC QLQ-C30- v3). The QLQ-C30 is composed of both multi-item scales and single-item measures. These include five functional scales, three symptom scales, a global health status / QoL scale, and six single items. Each of the multi-item scales includes a different set of items - no item occurs in more than one scale. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level. A high score for a functional scale represents a high/healthy level of functioning. A high score for the global health status/ QoL represents a high QoL and a high score for a symptom scale/item represents a high level of symptomatology/problems.

EORTC QLQ-C30 Scoring Manual. Fayers PM et al. on behalf of the EORTC Quality of Life Group. EORTC, 2001. ISBN: 2-9300.

mechanisms underlying a clonal evolution or AML/MDS syndromsat 10 years
Proportion of patients with complications within each entityat 10 years
Global response to treatmentat 10 years

Trial Locations

Locations (1)

Hématologie Greffe

🇫🇷

Paris, France

© Copyright 2025. All Rights Reserved by MedPath