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

NCT ID: NCT05903365

Last Updated: 2023-06-15

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 18 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-06-30
• Study Completion Date: 2028-03-31

Brief Summary

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.

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

Conditions

Fanconi Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Patient with Fanconi disease

Blood sampling

Intervention Type: OTHER

Additional blood samples at J100, M6, M12, M24

Interventions

Blood sampling

Additional blood samples at J100, M6, M12, M24

Intervention Type: OTHER

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

• Minimum Eligible Age: 6 Months
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Central Contacts

Flore Sicre de Fontbrune, Dr

Role: CONTACT

flore.sicre-de-fontbrune@aphp.fr

+33 1 42 49 42 67

Matthieu RESCHE-RIGON, Pr

Role: CONTACT

matthieu.resche-rigon@u-paris.fr

+33 1 42 49 97 42

Other Identifiers

APHP221272

Identifier Type: -

Identifier Source: org_study_id