Fanconi SyndromeHAPLO-FANCONINCT05903365
Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease
An observational study of Fanconi Syndrome, run by Assistance Publique - Hôpitaux de Paris.
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. Read more about this study
- Who is it for?
- Ages 6 months to 60 years
- Conditions the study is for
- Fanconi Syndrome
- What is being tested?
- Blood sampling
- How many people
- 18 participants
- Where
- No sites listed yet
- Study dates
- Jun 2023to Mar 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 60 years
- All sexes
- Child, Adult
Study population: Patient with Fanconi disease
Who may be able to join
- 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)
Who cannot join
- with an unaffected matched related or HLA 10/10 matched unrelated donnor
- under guardianship
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Etude Observationnelle de Suivi Des Greffes Haplo-identique Dans la Maladie de Fanconi
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.
Read the 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
- Being tested
- Blood sampling
- Medical subject headings
- Fanconi Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplingOther
Additional blood samples at J100, M6, M12, M24
| Study group | Role | What they receive |
|---|---|---|
| Patient with Fanconi disease | Not described Receives: Other: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Overall Survival Rate
Measured: 2 years after transplant
Secondary outcomes (50)
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
Measured: At day 100
Absolute neutrophils count
Measured: At 1 month
Absolute neutrophils count
Measured: At 3 months
Absolute neutrophils count
Measured: At 6 months
Absolute neutrophils count
Measured: At 12 months
Absolute neutrophils count
Measured: At 24 months
Absolute number of platelets
Measured: At 1 month
Absolute number of platelets
Measured: At 3 months
Absolute number of platelets
Measured: At 6 months
Absolute number of platelets
Measured: At 12 months
Absolute number of platelets
Measured: At 24 months
Incidence of grade 2 to 4 Acute Graft versus Host Disease
Measured: At 3 months
Incidence of Acute cortico-resistant Graft versus Host Disease
Measured: At 3 months
Incidence of Chronic Graft versus Host Disease
Measured: At 24 months
Incidence of relapse
Measured: At 12 months
Incidence of relapse
Measured: At 24 months
Progression free survival
Measured: At 12 months
Progression free survival
Measured: At 24 months
Incidence of reactivation of cytomegalovirus infection
Measured: At 12 months
Incidence of reactivation of Epstein Barr virus infection
Measured: At 12 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Measured: At 3 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Measured: At 6 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Measured: At 12 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Measured: At 24 months
Graft-versus-host disease-free, relapse-free survival (GRFS)
Measured: At 24 months
Incidence of cardiac toxities
Measured: At 12 months
Overall survival
Measured: At 12 months
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.
Measured: At inclusion
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.
Measured: At 3 months
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.
Measured: At 6 months
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.
Measured: At 12 months
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.
Measured: At 24 months
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.
Measured: At inclusion
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.
Measured: At 3 months
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.
Measured: At 6 months
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.
Measured: At 12 months
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.
Measured: At 24 months
Rate of chimerism
Measured: At 1 month
Rate of chimerism
Measured: At 3 months
Rate of chimerism
Measured: At 6 months
Rate of chimerism
Measured: At 12 months
Rate of chimerism
Measured: At 24 months
Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood
Measured: 3 months after transplant
Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood
Measured: 6 months after transplant
Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood
Measured: 12 months after transplant
Immune reconstitution by analyzing T, B, natural killer (NK), regulatory T cell levels in the peripheral blood
Measured: 24 months after transplant
Ferritine levels
Measured: At 3 months
Ferritine levels
Measured: At 6 months
Ferritine levels
Measured: At 12 months
Ferritine levels
Measured: At 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jun 2023
- Study startJun 2023 (estimated)
- Primary completionMar 2028 (estimated)
- Study completionMar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fanconi SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 18 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05903365
- Sponsor's protocol ID
- APHP221272
- Acronym
- HAPLO-FANCONI
- Status last verified
- Apr 2023
- First submitted
- 6 Jun 2023
- Last updated
- 15 Jun 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Etude Observationnelle de Suivi Des Greffes Haplo-identique Dans la Maladie de Fanconi
- ClinicalTrials.gov ID
- NCT05903365
- Acronym / sponsor ID
- HAPLO-FANCONI / APHP221272
- Conditions
- Fanconi Syndrome
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 18 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Jun 2023 (estimated)
- Primary completion
- Mar 2028 (estimated)
- Study completion
- Mar 2028 (estimated)
- First posted
- 15 Jun 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient with Fanconi disease | – | Other: Blood sampling |
Who may qualify
- Ages
- 6 months to 60 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Patient with Fanconi disease
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (2 listed)
- with an unaffected matched related or HLA 10/10 matched unrelated donnor
- under guardianship
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood samplingAdditional blood samples at J100, M6, M12, M24 | Other | Patient with Fanconi disease |
Primary outcome
Overall Survival Rate
Time frame: 2 years after transplant
50 secondary outcomes
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
Incidence of Acute cortico-resistant Graft versus Host Disease
Time frame: At 3 months
Incidence of Chronic Graft versus Host Disease
Time frame: At 24 months
Incidence of relapse
Time frame: At 12 months
Incidence of relapse
Time frame: At 24 months
Progression free survival
Time frame: At 12 months
Progression free survival
Time frame: At 24 months
Incidence of reactivation of cytomegalovirus infection
Time frame: At 12 months
Incidence of reactivation of Epstein Barr virus infection
Time frame: At 12 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Time frame: At 3 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Time frame: At 6 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Time frame: At 12 months
Incidence of severe infection of grade 4 and above according to Common Terminology Criteria for Adverse Events (CTCAE)
Time frame: At 24 months
Graft-versus-host disease-free, relapse-free survival (GRFS)
Time frame: At 24 months
Incidence of cardiac toxities
Time frame: At 12 months
Overall survival
Time frame: At 12 months
Quality of Life questionnaire for adults
Time frame: At inclusion
Quality of Life questionnaire for adults
Time frame: At 3 months
Quality of Life questionnaire for adults
Time frame: At 6 months
Quality of Life questionnaire for adults
Time frame: At 12 months
Quality of Life questionnaire for adults
Time frame: At 24 months
Quality of life questionnaire for minors
Time frame: At inclusion
Quality of life questionnaire for minors
Time frame: At 3 months
Quality of life questionnaire for minors
Time frame: At 6 months
Quality of life questionnaire for minors
Time frame: At 12 months
Quality of life questionnaire for minors
Time frame: At 24 months
Rate of chimerism
Time frame: At 1 month
Rate of chimerism
Time frame: At 3 months
Rate of chimerism
Time frame: At 6 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jun 2023.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Questions about this trial
What is this clinical trial studying?
An observational study of Fanconi Syndrome, run by Assistance Publique - Hôpitaux de Paris.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 15 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Flore Sicre de Fontbrune, Dr (+33 1 42 49 42 67, flore.sicre-de-fontbrune@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Overall Survival Rate (time frame: 2 years after transplant). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jun 2023.