French National Registry of Bone Marrow Failures

NCT04781790 | Recruiting DMC

• 1 other identifier: NI17045J
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Bone Marrow Failure Syndrome

Keywords

aplastic anemia; Fanconi anemia; blackfan diamond anemia; telomeropathies; inherited aplastic anemia; acquired aplastic anemia; medullary hypoplasia

Outcome Measures

Primary Outcomes (2)

• Prevalence of bone marrow failure

  at 10 years

• Distribution of different bone marrow failure syndromes

  at 10 years

Secondary Outcomes (9)

• Quality of life assessed by EORTC QLQ-C30- v3 questionnaire

  at inclusion

• Quality of life assessed by EORTC QLQ-C30- v3 questionnaire

  at 10 years

• mechanisms underlying a clonal evolution or AML/MDS syndroms

  at 10 years

• Proportion of patients with new forms of constitutional aplasias

  at 10 years

• Proportion of patients with complications within each entity

  at 10 years

Study Arms (1)

Patients with Bone marrow failure

Standard of care of patients with bone marrow failure

Other: Bone Marrow Failure

Interventions

Bone Marrow Failure OTHER

without interventional intervention . biological collection in the routine care Standard of care of patients with bone marrow failure.

Patients with Bone marrow failure

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with bone marrow failure syndromes (BMF)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hématologie Greffe

Paris, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Laboratory of hematology, Saint Louis hospital, Paris, France (blood, bone marrow, skin)

MeSH Terms

Conditions

Bone Marrow Failure Disorders; Anemia, Aplastic; Fanconi Anemia; Anemia, Diamond-Blackfan

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Anemia; Anemia, Hypoplastic, Congenital; Congenital Bone Marrow Failure Syndromes; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Red-Cell Aplasia, Pure

Central Study Contacts

Régis Peffault De Latour

CONTACT

+33142385073; regis.peffaultdelatour@aphp.fr

Matthieu Resche-Rigon

CONTACT

+3341499742; matthieu.resche-rigon@u-paris.fr

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 1, 2021
• First Posted: March 4, 2021
• Study Start: February 6, 2017
• Primary Completion (Estimated): February 6, 2027
• Study Completion (Estimated): February 6, 2027
• Last Updated: March 4, 2021

Record last verified: 2021-02

Locations

FR (1)