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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT05903365
Other study ID # APHP221272
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
Start date June 2023
Est. completion date March 2028

Study information

Verified date April 2023
Source Assistance Publique - Hôpitaux de Paris
Contact Flore Sicre de Fontbrune, Dr
Phone +33 1 42 49 42 67
Email flore.sicre-de-fontbrune@aphp.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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


Recruitment information / eligibility

Status Not yet recruiting
Enrollment 18
Est. completion date March 2028
Est. primary completion date March 2028
Accepts healthy volunteers
Gender All
Age group 6 Months to 60 Years
Eligibility 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

Study Design


Related Conditions & MeSH terms


Intervention

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

Locations

Country Name City State
n/a

Sponsors (1)

Lead Sponsor Collaborator
Assistance Publique - Hôpitaux de Paris

Outcome

Type Measure Description Time frame Safety issue
Primary Overall Survival Rate 2 years after transplant
Secondary Engraftment Engraftment at least 3 consecutive days with neutrophils > 0.5 G/L and 7 consecutive days with platelets > 20 G/L, with predominantly whole blood donor chimerism At day 100
Secondary Absolute neutrophils count At 1 month
Secondary Absolute neutrophils count At 3 months
Secondary Absolute neutrophils count At 6 months
Secondary Absolute neutrophils count At 12 months
Secondary Absolute neutrophils count At 24 months
Secondary Absolute number of platelets At 1 month
Secondary Absolute number of platelets At 3 months
Secondary Absolute number of platelets At 6 months
Secondary Absolute number of platelets At 12 months
Secondary Absolute number of platelets At 24 months
Secondary Incidence of grade 2 to 4 Acute Graft versus Host Disease At 3 months
Secondary Incidence of Acute cortico-resistant Graft versus Host Disease At 3 months
Secondary Incidence of Chronic Graft versus Host Disease At 24 months
Secondary Incidence of relapse At 12 months
Secondary Incidence of relapse At 24 months
Secondary Progression free survival At 12 months
Secondary Progression free survival At 24 months
Secondary Incidence of reactivation of cytomegalovirus infection At 12 months
Secondary Incidence of reactivation of Epstein Barr virus infection At 12 months
Secondary Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE) At 3 months
Secondary Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE) At 6 months
Secondary Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE) At 12 months
Secondary Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE) At 24 months
Secondary Graft-versus-host disease-free, relapse-free survival (GRFS) At 24 months
Secondary Incidence of cardiac toxities At 12 months
Secondary Overall survival At 12 months
Secondary Quality of Life questionnaire for adults Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level. At inclusion
Secondary Quality of Life questionnaire for adults Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level. At 3 months
Secondary Quality of Life questionnaire for adults Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level. At 6 months
Secondary Quality of Life questionnaire for adults Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level. At 12 months
Secondary Quality of Life questionnaire for adults Quality of life will be assessed for adult using "European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ) " EORTC QLQ-C30-V3 questionnaire.The QLQ-C30 is composed of both multi-item scales and single-item measures. All of the scales and single-item measures range in score from 0 to 100. A high scale score represents a higher response level. At 24 months
Secondary Quality of life questionnaire for minors Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning. At inclusion
Secondary Quality of life questionnaire for minors Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning. At 3 months
Secondary Quality of life questionnaire for minors Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning. At 6 months
Secondary Quality of life questionnaire for minors Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning. At 12 months
Secondary Quality of life questionnaire for minors Quality of life will be assessed for minor using The Pediatric Quality of Life Inventory™ (PedsQL™) The 36-item PedsQL™ Family Impact Module is a parent-report instrument designed to assess the impact of pediatric chronic health conditions on parents and the family. It includes 6 subscales measuring parents' self-reported functioning. The scale has five Likert response options, 'never', 'almost never', 'sometimes', 'often' and 'almost always' (corresponding to scores of 100, 75, 50, 25 and 0). Higher scores indicate better functioning. At 24 months
Secondary Rate of chimerism At 1 month
Secondary Rate of chimerism At 3 months
Secondary Rate of chimerism At 6 months
Secondary Rate of chimerism At 12 months
Secondary Rate of chimerism At 24 months
Secondary Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood 3 months after transplant
Secondary Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood 6 months after transplant
Secondary Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood 12 months after transplant
Secondary Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood 24 months after transplant
Secondary Ferritine levels At 3 months
Secondary Ferritine levels At 6 months
Secondary Ferritine levels At 12 months
Secondary Ferritine levels At 24 months
See also
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