Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease (HAPLO-FANCONI)

Assistance Publique - Hôpitaux de Paris

Status

Not yet enrolling

Conditions

Fanconi Syndrome

Treatments

Other: Blood sampling

Study type

Observational

Funder types

Other

Identifiers

NCT05903365

APHP221272

Details and patient eligibility

About

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.

Full 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.

Enrollment

18 estimated patients

Sex

All

Ages

6 months to 60 years old

Volunteers

No Healthy Volunteers

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