Fanconi AnemiaPhase 1/2FancoMobNCT02678533
Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor
A Phase 1/2 study testing G-CSF and Plerixafor in people with Fanconi Anemia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The purpose of this study is to assess the feasibility of Plerixafor used in combination with G-CSF (Granulocyte Colony Stimulating Factor) in 5 Fanconi anemia patients to mobilize and collect a sufficient number of peripheral blood CD34+ cells for peripheral blood apheresis, for further gene therapy study. Read more about this study
- Who is it for?
- Ages 2 to 17 years
- Conditions the study is for
- Fanconi Anemia
- What is being tested?
- G-CSF and Plerixafor
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 1 siteFrance
- Study dates
- 10 Feb 2017to 3 May 2019
- Phase
- Phase 1/2
- Are there results?
- None posted in the registry
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 2 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Patient with Fanconi anemia
- Patient from 2 to 17 years old
- Potential indication for allogenic bone arrow graft without HLA-identical brotherhood available
- Patient's weight >10kg
- Treated and followed for at least the previous two years in a specialized center where they got a full assessment of their disease
- For women of childbearing age, not pregnant and use of an effective contraception during the entire participation in the research.
- Affiliated or beneficiary of an health insurance regimen
- Informed and signed consent
Who cannot join
- Patient unable to follow the visits required by the protocol
- Positive serology for HIV-1/2, HTLV-1/2, HCV and HbS
- Bacterial, viral, fungal or parasitic active infection with clinical signs
- Personal history of cancer, myeloproliferative hematopathy or immune deficiency
- Heart failure and / or heart rhythm disorder
- History of allogeneic graft of hematopoietic stem cells
Show all 19Show fewer
- Patient with an HLA-identical brotherhood donor available
- Myelodysplasia diagnose on myelogram
- Cytogenetic abnormality on karyotype
- Malignant solid tumor
- Documented spontaneous genetic reversion of medullary process
- Diagnosis of a psychiatric disorder that could compromise his/her ability to participate in the study
- Any disorder according to the investigator, that could compromise the ability of patient to give his writing consent and/or to comply with requiring study's procedures
- Current Pregnancy
- Heart, kidney or liver failure
- Current participation in another interventional clinical trial
- Patient under Medical Assistance State
- Hypersensitivity to plerixafor or any excipient contained in MOZOBIL®
- Hypersensitivity to filgrastim or any of its' excipient
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy
The purpose of this study is to assess the feasibility of Plerixafor used in combination with G-CSF (Granulocyte Colony Stimulating Factor) in 5 Fanconi anemia patients to mobilize and collect a sufficient number of peripheral blood CD34+ cells for peripheral blood apheresis, for further gene therapy study.
Read the detailed description
Fanconi anemia is an autosomal recessive disease with an average survival of around 24 years old. The number of cells producted by bone marrow decreases around 5-10 years old. Hematological symptoms occur around 7 years old. 80% of patients with Fanconi anemia have clinical signs of bone marrow failure in the first decade of life. Generally macrocytosis is the first noticeable sign. Then it leads to thrombocytopenia, anemia and pancytopenia.
Epidemiologic studies show that nearly all of the patients will have medullar aplasia before 40 years old, which is then the first cause of mortality.
It must be emphasized that these complications may occur simultaneously for the same patient, so joint therapeutic intervention is needed.
There is no basic treatment. Some currently used treatments cure cytopenias. These treatments involve blood transfusion, oral androgen, hematopoietic growth factor administration, such as Epo and G-CSF to treat anemia and neutropenia. These treatments are not curative. Hematopoietic stem cell transplantation is the only treatment able to restore permanently hematopoiesis. However, this treatment leads to a high level risk of developing solid tumors and other complications.
All these data justify of developing a stem cells gene therapy treatment using a lentiviral vector expressing wild-type FANCA gene under CIBER promoter.
Three studies have shown the potential number of cells to be mobilized in patients with Fanconi anemia.
The aim is first, to show if administering G-CSF with plerixafor may lead to collect enough cells to potentially perform a gene therapy graft. Secondly the study will assess the tolerance, the stem cells' mobilization kinetic and collected cells' biological features.
This study will be performed in Necker Children Hospital. 8 patients will be enrolled in order to reach 5 treated patients and to analyse how many injections and days are required to reach the cells' number goal.
Sequential blood samples of patients will be drawn to monitor complete blood count (CBC), platelet, CD34+ cells rate and stem cells phenotype.
The clinical and biological data will be anonymously entered in a electronic case report by the investigators up to the end of the study.
- Conditions
- Fanconi Anemia
- Being tested
- G-CSF, Plerixafor
- Keywords
- Fanconi Anemia, CD34+ cells mobilization, G-CSF, Plerixafor, gene therapy
- Medical subject headings
- Fanconi Anemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
G-CSFDrug
D1 to D4 : Injection of 12 µg/kg of G-CSF twice a day . D5 : injection of 12 µg/kg of G-CSF (once/ twice a day according to cytapheresis's realization)
PlerixaforDrug
D5 : injection of 24mg/kg of plerixafor once a day until cytapheresis has be done (maximum of 4 days)
| Study group | Role | What they receive |
|---|---|---|
| Fanconi anemia | Experimental | G-CSF and Plerixafor Receives: Drug: G-CSF; Drug: Plerixafor |
What is being measured
The primary outcome is the main question the study is designed to answer.
level of CD34+ cells mobilization
Measured: from day 5 to day 8 after the first injection of G-CSF
Secondary outcomes (1)
number of treatment-related adverse events as a measure of tolerability
Occurrence of adverse effect due to G-CSF and plerixafor administration
Measured: 30 days after cytapheresis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2016 (estimated)
- Study start10 Feb 2017
- Primary completion20 Nov 2018
- Study completion3 May 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fanconi AnemiaStudies 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
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- EuroFancolen, URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Marina CAVAZZANA, MD, PhD, Study director, AP-HP, Necker hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02678533
- Sponsor's protocol ID
- P130103
- Other IDs
- 2014-005264-14, 2014
- Acronym
- FancoMob
- Status last verified
- Sep 2025
- First submitted
- 5 Feb 2016
- Last updated
- 11 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Diana JS, Manceau S, Leblanc T, Magnani A, Magrin E, Bendavid M, Couzin C, Joseph L, Soulier J, Cavazzana M, Lefrere F. A new step in understanding stem cell mobilization in patients with Fanconi anemia: A bridge to gene therapy. Transfusion. 2022 Jan;62(1):165-172. doi: 10.1111/trf.16721. Epub 2021 Nov 9.
PubMed 34751952
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy
- ClinicalTrials.gov ID
- NCT02678533
- Acronym / sponsor ID
- FancoMob / P130103
- Conditions
- Fanconi Anemia
- Keywords
- Fanconi Anemia, CD34+ cells mobilization, G-CSF, Plerixafor, gene therapy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- EuroFancolen, URC-CIC Paris Descartes Necker Cochin
- Study start
- 10 Feb 2017 (actual)
- Primary completion
- 20 Nov 2018 (actual)
- Study completion
- 3 May 2019 (actual)
- First posted
- 9 Feb 2016 (estimated)
- 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.
The purpose of this study is to assess the feasibility of Plerixafor used in combination with G-CSF (Granulocyte Colony Stimulating Factor) in 5 Fanconi anemia patients to mobilize and collect a sufficient number of peripheral blood CD34+ cells for peripheral blood apheresis, for further gene therapy study.
Detailed description
Fanconi anemia is an autosomal recessive disease with an average survival of around 24 years old. The number of cells producted by bone marrow decreases around 5-10 years old. Hematological symptoms occur around 7 years old. 80% of patients with Fanconi anemia have clinical signs of bone marrow failure in the first decade of life. Generally macrocytosis is the first noticeable sign. Then it leads to thrombocytopenia, anemia and pancytopenia.
Epidemiologic studies show that nearly all of the patients will have medullar aplasia before 40 years old, which is then the first cause of mortality.
It must be emphasized that these complications may occur simultaneously for the same patient, so joint therapeutic intervention is needed.
There is no basic treatment. Some currently used treatments cure cytopenias. These treatments involve blood transfusion, oral androgen, hematopoietic growth factor administration, such as Epo and G-CSF to treat anemia and neutropenia. These treatments are not curative. Hematopoietic stem cell transplantation is the only treatment able to restore permanently hematopoiesis. However, this treatment leads to a high level risk of developing solid tumors and other complications.
All these data justify of developing a stem cells gene therapy treatment using a lentiviral vector expressing wild-type FANCA gene under CIBER promoter.
Three studies have shown the potential number of cells to be mobilized in patients with Fanconi anemia.
The aim is first, to show if administering G-CSF with plerixafor may lead to collect enough cells to potentially perform a gene therapy graft. Secondly the study will assess the tolerance, the stem cells' mobilization kinetic and collected cells' biological features.
This study will be performed in Necker Children Hospital. 8 patients will be enrolled in order to reach 5 treated patients and to analyse how many injections and days are required to reach the cells' number goal.
Sequential blood samples of patients will be drawn to monitor complete blood count (CBC), platelet, CD34+ cells rate and stem cells phenotype.
The clinical and biological data will be anonymously entered in a electronic case report by the investigators up to the end of the study.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fanconi anemia | Experimental | Drug: G-CSF, Drug: PlerixaforG-CSF and Plerixafor |
Who may qualify
- Ages
- 2 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (8 listed)
- Patient with Fanconi anemia
- Patient from 2 to 17 years old
- Potential indication for allogenic bone arrow graft without HLA-identical brotherhood available
- Patient's weight >10kg
- Treated and followed for at least the previous two years in a specialized center where they got a full assessment of their disease
Key exclusion criteria (19 listed)
- Patient unable to follow the visits required by the protocol
- Positive serology for HIV-1/2, HTLV-1/2, HCV and HbS
- Bacterial, viral, fungal or parasitic active infection with clinical signs
- Personal history of cancer, myeloproliferative hematopathy or immune deficiency
- Heart failure and / or heart rhythm disorder
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 |
|---|---|---|
| G-CSFD1 to D4 : Injection of 12 µg/kg of G-CSF twice a day . D5 : injection of 12 µg/kg of G-CSF (once/ twice a day according to cytapheresis's realization) | Drug | Fanconi anemia |
| PlerixaforD5 : injection of 24mg/kg of plerixafor once a day until cytapheresis has be done (maximum of 4 days) | Drug | Fanconi anemia |
Primary outcome
level of CD34+ cells mobilization
Time frame: from day 5 to day 8 after the first injection of G-CSF
1 secondary outcome
number of treatment-related adverse events as a measure of tolerability
Time frame: 30 days after cytapheresis
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Sep 2025.
- Results publication: PubMed 34751952Diana JS, Manceau S, Leblanc T, Magnani A, Magrin E, Bendavid M, Couzin C, Joseph L, Soulier J, Cavazzana M, Lefrere F. A new step in understanding stem cell mobilization in patients with Fanconi anemia: A bridge to gene therapy. Transfusion. 2022 Jan;62(1):165-172. doi: 10.1111/trf.16721. Epub 2021 Nov 9.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Marina CAVAZZANA, MD, PhD study director
AP-HP, Necker hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing G-CSF and Plerixafor in people with Fanconi Anemia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 8 inclusion and 19 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: finished, as of the sponsor's last update on 11 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
level of CD34+ cells mobilization (time frame: from day 5 to day 8 after the first injection of G-CSF). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02678533, which also lists 1 linked publication.
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 11 Sep 2025.