Fanconi AnemiaPhase 2NCT06045052
Eltrombopag for Treatment of Fanconi Anemia
A Phase 2 study testing Eltrombopag in people with Fanconi Anemia, run by Julian Sevilla at 1 site in Spain.
Trial summary
An open-label, phase II study to assess the efficacy and safety of eltrombopag for the treatment of children and adolescents with Fanconi anemia. Read more about this study
- Who is it for?
- Ages 4 to 17 years
- Conditions the study is for
- Fanconi Anemia
- What is being tested?
- Eltrombopag
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteSpain
- Study dates
- 2 Dec 2020to 29 Aug 2023
- Phase
- Phase 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 4 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Patients with a diagnosis of Fanconi anemia. Diagnosis will be defined by the presence of biallelic mutations in genes known to cause the disease and/or by positive chromosome breakage analysis of lymphocytes and/or skin fibroblasts (for cases of mosaicism).
- Age from 4 to ≤ 17 years.
- Lansky index > 80%.
- Informed consent provided in accordance with current legislation.
- Presenting with one or more of one of the following clinically significant cytopenias:
- platelet count ≤ 50x109/L or transfusion dependence, having required at least 2 transfusions in the 8 weeks prior to inclusion in the study; granulocyte count < 0.75x109/L; hemoglobin < 9 gr/dL or transfusion-dependent anemia having received 2 transfusions in the 8 weeks prior to inclusion in the study.
Who cannot join
- Patients with HLA-matched related donor or unrelated donor with a 12/12 match who is immediately available.
- Evidence of myelodysplastic syndrome or leukemia or cytogenetic abnormalities predictive of these disorders in bone marrow aspirates. In the event, the evaluations performed two months before patient inclusion in the clinical study will be considered valid.
- Baseline creatinine greater than 2.5 times the upper limit of normality.
- GOT/AST or GPT/ALT more than three times the upper limit of normality. Direct bilirubin greater than 1.5 times the upper limit of normality.
- Patients who are already receiving treatment with some drug for bone marrow failure may be included as long as the dose administered remains stable for at least two months. In the event that such treatment requires an increase in dose during the study, the patient must withdraw from the trial. Patients who have already started Revolade® treatment in the previous two months may also be included, and the blood counts and baseline bone marrow studies performed at the start of treatment will be used.
- Women of postpubertal age and therefore at risk of pregnancy should have a negative serum or urine pregnancy test at the screening visit and agree to use a contraceptive method throughout the treatment period and for at least one month after.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open-label, Phase II Study to Assess the Efficacy and Safety of Eltrombopag for the Treatment of Children and Adolescents With Fanconi Anemia.
An open-label, phase II study to assess the efficacy and safety of eltrombopag for the treatment of children and adolescents with Fanconi anemia.
Read the detailed description
Open-label, phase II study to assess the efficacy and safety of eltrombopag in the treatment of patients diagnosed with Fanconi anemia who have no immediate curative treatment for their bone marrow failure (n=10). The primary objective of this open-label, phase II proof of concept study is to assess the efficacy and safety of using eltrombopag for the treatment of patients with FA before conducting a larger phase II/III study.
Specific objectives:
- Primary: To assess the efficacy of eltrombopag on hematopoiesis by measuring changes in peripheral platelet, hemoglobin and neutrophil counts.
- Secondary: To assess the safety of eltrombopag in patients with Fanconi anemia. If the preliminary efficacy and safety results from the study are positive, we will propose its expansion to a multi-institutional Phase II/III study within the framework of the Spanish Fanconi Anemia Research Network.
- Conditions
- Fanconi Anemia
- Being tested
- Eltrombopag
- Keywords
- Fanconi Anemia
- Medical subject headings
- Fanconi Anemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EltrombopagDrug
Also called Revolade®
Eltrombopag tablets by mouth once daily for 24 weeks (6 months) with the dose depending on race, age and weight.
| Study group | Role | What they receive |
|---|---|---|
| Eltrombopag | Experimental | Eltrombopag will be administered orally once daily for 24 weeks (6 months) and the dose will be adjusted according to race, age and weight. Patients who achieve at least partial remission may continue treatment for up to one year. Receives: Drug: Eltrombopag |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessing the efficacy of eltrombopag on hematopoiesis
An analysis of the proportion of patients with complete response and/or partial response after 6 months of treatment in the absence of transfusions or rescue therapy will be performed.
Measured: 6 months
Secondary outcomes (3)
Evaluation of the incidence of clonal evolution
Monitoring of cytogenetic abnormalities or specific mutations related to hematologic malignancies at months 6 and 12 from start of treatment.
Measured: 6 and 12 months.
Identification and tracking of adverse reactions associated with eltrombopag treatment in patients with Fanconi anemia graded
The CTCAE version 5.0 criteria will be used at 3, 6, 9 and 12 months from start of treatment.
Measured: 3, 6, 9 ans 12 months.
Determination of the proportion of grafted cells
It will be evaluated in patients seen to have reverted cells, involving either correction of a pathogenic mutation (natural mosaicism) or due to the infusion of hematopoietic stem cells transduced with the lentiviral vector carrying the FANCA gene
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2023
- Study start2 Dec 2020
- Primary completion19 Jun 2023
- Study completion29 Aug 2023
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.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Julian Sevilla
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Julian Sevilla, Hospital Infantil Universitario Niño Jesús, Madrid, Spain
- Investigators
- Julián Sevilla Navarro, MD, PhD, Principal investigator, Hospital Infantil Universitario Niño Jesús (HIUNJ)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06045052
- Sponsor's protocol ID
- FANCREV
- Status last verified
- Sep 2023
- First submitted
- 13 Sep 2023
- Last updated
- 21 Sep 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Publications
Iriondo J, Zubicaray J, Rio P, Catala A, Solsona M, Sanz A, Gomez A, Sebastian E, de la Cruz A, Galan A, Navarro S, Larcher L, de Andoin NG, Uriz JJ, Vagace JM, Gonzalez de Pablo J, Pujol MR, Nicoletti E, Surralles J, Martin-Prado S, Schwartz JD, Soulier J, Bueren JA, Sevilla J. Eltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV. Eur J Haematol. 2025 Oct;115(4):403-412. doi: 10.1111/ejh.70007. Epub 2025 Jul 16.
PubMed 40665878
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label, Phase II Study to Assess the Efficacy and Safety of Eltrombopag for the Treatment of Children and Adolescents With Fanconi Anemia.
- ClinicalTrials.gov ID
- NCT06045052
- Acronym / sponsor ID
- FANCREV
- Conditions
- Fanconi Anemia
- Keywords
- Fanconi Anemia
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Julian SevillaUniversity, hospital or other
- Study start
- 2 Dec 2020 (actual)
- Primary completion
- 19 Jun 2023 (actual)
- Study completion
- 29 Aug 2023 (actual)
- First posted
- 21 Sep 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.
An open-label, phase II study to assess the efficacy and safety of eltrombopag for the treatment of children and adolescents with Fanconi anemia.
Detailed description
Open-label, phase II study to assess the efficacy and safety of eltrombopag in the treatment of patients diagnosed with Fanconi anemia who have no immediate curative treatment for their bone marrow failure (n=10). The primary objective of this open-label, phase II proof of concept study is to assess the efficacy and safety of using eltrombopag for the treatment of patients with FA before conducting a larger phase II/III study.
Specific objectives:
- Primary: To assess the efficacy of eltrombopag on hematopoiesis by measuring changes in peripheral platelet, hemoglobin and neutrophil counts.
- Secondary: To assess the safety of eltrombopag in patients with Fanconi anemia. If the preliminary efficacy and safety results from the study are positive, we will propose its expansion to a multi-institutional Phase II/III study within the framework of the Spanish Fanconi Anemia Research Network.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Eltrombopag | Experimental | Drug: EltrombopagEltrombopag will be administered orally once daily for 24 weeks (6 months) and the dose will be adjusted according to race, age and weight. Patients who achieve at least partial remission may continue treatment for up to one year. |
Who may qualify
- Ages
- 4 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- Patients with a diagnosis of Fanconi anemia. Diagnosis will be defined by the presence of biallelic mutations in genes known to cause the disease and/or by positive chromosome breakage analysis of lymphocytes and/or skin fibroblasts (for cases of mosaicism).
- Age from 4 to ≤ 17 years.
- Lansky index > 80%.
- Informed consent provided in accordance with current legislation.
- Presenting with one or more of one of the following clinically significant cytopenias:
Key exclusion criteria (6 listed)
- Patients with HLA-matched related donor or unrelated donor with a 12/12 match who is immediately available.
- Evidence of myelodysplastic syndrome or leukemia or cytogenetic abnormalities predictive of these disorders in bone marrow aspirates. In the event, the evaluations performed two months before patient inclusion in the clinical study will be considered valid.
- Baseline creatinine greater than 2.5 times the upper limit of normality.
- GOT/AST or GPT/ALT more than three times the upper limit of normality. Direct bilirubin greater than 1.5 times the upper limit of normality.
- Patients who are already receiving treatment with some drug for bone marrow failure may be included as long as the dose administered remains stable for at least two months. In the event that such treatment requires an increase in dose during the study, the patient must withdraw from the trial. Patients who have already started Revolade® treatment in the previous two months may also be included, and the blood counts and baseline bone marrow studies performed at the start of treatment will be used.
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 |
|---|---|---|
| EltrombopagAlso: Revolade®Eltrombopag tablets by mouth once daily for 24 weeks (6 months) with the dose depending on race, age and weight. | Drug | Eltrombopag |
Primary outcome
Assessing the efficacy of eltrombopag on hematopoiesis
Time frame: 6 months
An analysis of the proportion of patients with complete response and/or partial response after 6 months of treatment in the absence of transfusions or rescue therapy will be performed.
3 secondary outcomes
Evaluation of the incidence of clonal evolution
Time frame: 6 and 12 months.
Identification and tracking of adverse reactions associated with eltrombopag treatment in patients with Fanconi anemia graded
Time frame: 3, 6, 9 ans 12 months.
Determination of the proportion of grafted cells
Time frame: 12 months
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 21 Sep 2023.
- Derived from this study: PubMed 40665878Iriondo J, Zubicaray J, Rio P, Catala A, Solsona M, Sanz A, Gomez A, Sebastian E, de la Cruz A, Galan A, Navarro S, Larcher L, de Andoin NG, Uriz JJ, Vagace JM, Gonzalez de Pablo J, Pujol MR, Nicoletti E, Surralles J, Martin-Prado S, Schwartz JD, Soulier J, Bueren JA, Sevilla J. Eltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV. Eur J Haematol. 2025 Oct;115(4):403-412. doi: 10.1111/ejh.70007. Epub 2025 Jul 16.
- Individual participant dataSharing planned: Yes
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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.
Julián Sevilla Navarro, MD, PhD principal investigator
Hospital Infantil Universitario Niño Jesús (HIUNJ)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Eltrombopag in people with Fanconi Anemia, run by Julian Sevilla at 1 site in Spain.
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 6 inclusion and 6 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 21 Sep 2023. 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 Spain. 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 phase mean?
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?
Assessing the efficacy of eltrombopag on hematopoiesis (time frame: 6 months). 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 NCT06045052, 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 21 Sep 2023.