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NCT Number: NCT04781790

French National Registry of Bone Marrow Failures

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.

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Primary location

Hématologie Greffe

Paris, France

Location status: Recruiting

Location contact

Regis PEFFAULT DE LATOUR

CONTACT

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Bone Marrow Failure

Other

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

Primary outcomes

  1. Prevalence of bone marrow failure

    Time frame: at 10 years

  2. Distribution of different bone marrow failure syndromes

    Time frame: at 10 years

Secondary outcomes

  1. Quality of life assessed by EORTC QLQ-C30- v3 questionnaire

    Time frame: at inclusion

    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.

  2. Quality of life assessed by EORTC QLQ-C30- v3 questionnaire

    Time frame: at 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.

  3. mechanisms underlying a clonal evolution or AML/MDS syndroms

    Time frame: at 10 years

  4. Proportion of patients with new forms of constitutional aplasias

    Time frame: at 10 years

  5. Proportion of patients with complications within each entity

    Time frame: at 10 years

  6. Prognostic factor ans treatment response

    Time frame: at 10 years

  7. Pathophysiology of bone marrow failures

    Time frame: at 10 years

  8. Global response to treatment

    Time frame: at 10 years

  9. Incidence and outcome of extra hematological complications including solid tumors, fertility

    Time frame: within 10 years

Study contacts

Contact information is provided by the study sponsor or research team.

Matthieu Resche-Rigon

CONTACT

[email protected]

+3341499742

Régis Peffault De Latour

CONTACT

[email protected]

+33142385073

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

French National Registry of Bone Marrow Failures: Prospective and Retrospective Database Associated to a Collection of Biological Samples: RIME Project

Acronym: RIME

Important dates

Study start
2017
Primary completion
2027
Study completion
2027
First posted
Mar 4, 2021
Registry last updated
Mar 4, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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