Not yet recruiting NCT05903365

Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease

— Observational Fanconi Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: The protocol lists: Blood sampling.
Who it may be relevant to: Registry conditions: Fanconi Syndrome. Basic parameters: 6 months — 60 years · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: Center list to be confirmed — check the primary protocol.
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Etude Observationnelle de Suivi Des Greffes Haplo-identique Dans la Maladie de Fanconi

Overview

This observational protocol will allow for an independent, prospective evaluation of the improvement in survival of patients with Fanconi disease in hematological deadlock due to the absence of an HLA-identical donor and having received a haploidentical transplant.

Detailed description

Fanconi's disease is characterised by a constitutional defect in DNA repair which results in the occurrence of bone marrow failure and haematological malignancies, mainly myeloid: at the age of 40, the cumulative incidence of these two types of pathology reaches almost 100%. The only curative treatment for haemtalogocial diseases is allogenic hematopoietic stem cell transplant. Transplantation modalities must be adapted to the particular susceptibility of these patients to DNA bridging agents and radiotherapy. HSC transplantation is indicated with an unaffected matched related or matched unrelated donor when the patient has severe bone marrow failure or a poor prognostic clonal evolution (cytogenetic evolution or proven haemopathy). Alternative transplants (9/10 pheno-identical, haplo-identical and placental blood donors) were no longer proposed in most cases due to the frequency of severe complications (graft-versus-host disease, viral infections) and the catastrophic medium-term survival of around 40% (Dufort, Bone Marrow Transplant 2012, Gluckman Biol Blood Marrow Transplant. 2007). The development over the last decade of new haploidentical or phenoidentical 9/10 transplant protocols with unmodified grafts and GVH prophylaxis with post-transplant cyclosphosphamide or ex vivo T-depletion adapted to the particular susceptibility of patients with Fanconi disease has reduced the incidence of these severe complications.

Interventions

Other Blood sampling
Additional blood samples at J100, M6, M12, M24

Primary outcome measures

Overall Survival Rate [Time frame: 2 years after transplant]

Secondary outcome measures (12)

Engraftment [Time frame: At day 100]
Absolute neutrophils count [Time frame: At 1 month]
Absolute neutrophils count [Time frame: At 3 months]
Absolute neutrophils count [Time frame: At 6 months]
Absolute neutrophils count [Time frame: At 12 months]
Absolute neutrophils count [Time frame: At 24 months]
Absolute number of platelets [Time frame: At 1 month]
Absolute number of platelets [Time frame: At 3 months]
Absolute number of platelets [Time frame: At 6 months]
Absolute number of platelets [Time frame: At 12 months]
Absolute number of platelets [Time frame: At 24 months]
Incidence of grade 2 to 4 Acute Graft versus Host Disease [Time frame: At 3 months]

Eligibility criteria

Inclusion criteria

Diagnosis of Fanconi disease confirmed by chromosome breakage test and/or genetic analysis
aged between 6 months and 60 years
with severe pancytopenia (2 of the following criteria: reticulocytes < 60 G/L, PNN < 0.5 G/L and/or platelets < 20 G/L or patients with more than 6 transfusions in the last 12 months)
with clonal progression (poor prognostic cytogenetics, myelodysplastic syndrome or acute leukaemia)
with an unaffected haploidentical donor
having signed the consent after having read the information note, consent of both parents for minors, of the guardian for patients under guardianship
having a social security scheme (beneficiary or entitled person)

Exclusion criteria

with an unaffected matched related or HLA 10/10 matched unrelated donnor
under guardianship

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Study design

Observational model: Cohort

Study locations

Center list to be confirmed — check the primary protocol.

Identifiers

NCT: NCT05903365 · APHP221272

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗