Fanconi Anemia Complementation Group APhase 2NCT04248439
Gene Therapy for Fanconi Anemia, Complementation Group A
A Phase 2 study testing RP-L102 in people with Fanconi Anemia Complementation Group A, run by Rocket Pharmaceuticals Inc. at 2 sites in United States.
Trial summary
The objective of this study is to assess the therapeutic efficacy of a hematopoietic cell-based gene therapy for patients with Fanconi anemia, subtype A (FA-A). Hematopoietic stem cells from mobilized peripheral blood of patients with FA-A will be transduced ex vivo (outside the body) with a lentiviral vector carrying… Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Fanconi Anemia Complementation Group A
- What is being tested?
- RP-L102
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 2 sitesUnited States
- Study dates
- 15 Jul 2020to 5 May 2026
- Phase
- Phase 2
- 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 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Fanconi anemia as diagnosed by chromosomal fragility assay of cultured lymphocytes in the presence of DEB or a similar DNA-crosslinking agent
- Subject of the complementation group FA-A
- Minimum age: 1 year and a minimum weight of 8 kg
- At least 30 CD34+ cells/μL are determined in one bone marrow (BM) aspiration within 3 months prior to CD34+ cell collection OR
- 6. Provide informed consent in accordance with current legislation 7. Women of childbearing age must have a negative urine pregnancy test at the baseline visit, and accept the use of an effective contraception method during participation in the trial
Who cannot join
- Subjects with an available and medically eligible HLA-identical sibling donor.
- Evidence of myelodysplastic syndrome or leukemia, or cytogenetic abnormalities other than those reported as variant(s) of normal in BM aspirate analysis. This assessment should be made by valid studies conducted within the 3 months before the subject commences the stem cell mobilization/collection procedures of the clinical trial.
- Subjects with somatic mosaicism associated with stable or improved counts in all PB cell lineages. (If T-lymphocyte chromosomal fragility analysis indicates potential mosaicism, a medically significant decrease (≥1 NCI CTCAE grade) in at least one blood lineage over time must be documented to enable eligibility, as should <5% resistance of bone marrow colony forming cells (CFCs) to 10nM MMC; whenever possible potential mosaicism should also be evaluated by gene sequencing of MMC-resistant CFCs).
- Lansky performance status ≤60%.
- Any concomitant disease or condition that, in the opinion of the Principal Investigator, renders the subject unfit to participate in the study.
- Pre-existing sensory or motor impairment ≥grade 2 according to the criteria of the NCI.
Show all 19Show fewer
- Pregnant or breastfeeding women.
- Hepatic dysfunction as defined by either:
- Bilirubin >3.0 × the upper limit of normal (ULN) or
- Alanine aminotransferase (ALT) > 5.0 × ULN or
- Aspartate aminotransferase (AST) > 5.0 × ULN
- For subjects with bilirubin, ALT or AST above ULN, a workup to identify the etiology of liver abnormality should be conducted prior to confirmation of eligibility as stipulated in exclusion criterion 5, including evaluation of viral hepatitis, iron overload, drug injury or other causes.
- Renal dysfunction requiring either hemodialysis or peritoneal dialysis.
- Pulmonary dysfunction as defined by either:
- Need for supplemental oxygen during the prior 2 weeks in absence of acute infection or
- Oxygen saturation by pulse oximetry <90%.
- Evidence of active metastatic or locoregionally advanced malignancy for which survival is anticipated to be less than 3 years.
- Subject is receiving androgens (i.e. danazol, oxymetholone).
- Subject is receiving other investigational therapy for treatment/prevention of FA-associated bone marrow failure.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University of Minnesota
Minneapolis, Minnesota, 55454
Stanford University
Stanford, California, 94304
About this study
Official title: A Phase 2 Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A
The objective of this study is to assess the therapeutic efficacy of a hematopoietic cell-based gene therapy for patients with Fanconi anemia, subtype A (FA-A).
Hematopoietic stem cells from mobilized peripheral blood of patients with FA-A will be transduced ex vivo (outside the body) with a lentiviral vector carrying the FANCA gene. After transduction, the corrected stem cells will be infused intravenously back to the patient with the goal of preventing bone marrow failure.
Read the detailed description
This is a pediatric open-label Phase II clinical trial to assess the efficacy of a hematopoietic gene therapy consisting of autologous CD34+ enriched cells transduced with a lentiviral vector carrying the FANCA gene in subjects with FA-A.
Enriched CD34+ hematopoietic stem cells will be transduced ex vivo with the therapeutic lentiviral vector and infused via intravenous infusion following transduction without any prior conditioning.
- Conditions
- Fanconi Anemia Complementation Group A
- Being tested
- RP-L102
- Keywords
- anemia, bone marrow failure, gene therapy
- Medical subject headings
- Fanconi Syndrome, Anemia, Bone Marrow Failure Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RP-L102Biological
CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene
| Study group | Role | What they receive |
|---|---|---|
| RP-L102 | Experimental | RP-L102 is CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene Receives: Biological: RP-L102 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bone Marrow (BM) Colony-Forming Cell (CFC) Mitomycin-C (MMC) resistance
Bone Marrow (BM) colony-forming cell (CFC) mitomycin-C (MMC) resistance ≥20% at 12 months post-infusion with a confirmatory result at 18 or 21 months (MMC at 10 nM concentration)
Measured: 21 months
Secondary outcomes (10)
Genetic Correction
Evidence of genetic correction as demonstrated by ≥0.1 VCN level of FANCA-LV provirus in total PB cells at 18 months post-infusion with a confirmatory result at 21 or 24 months
Measured: 24 months
Hematologic Stability- Hemoglobin
Hematologic stability demonstrated by hemoglobin levels remaining ≥75% of 6-month post-infusion nadir value, in the absence of Myelodysplastic Syndrome (MDS), Acute Myeloid Leukemia (AML), and/or progressive cytogenetic and/or molecular abnormalities known to be associated with MDS/AML at 18 months post-infusion with a confirmatory result at 21 or 24 months. In settings in which 6-month post-infusion neutrophil or platelet values are demonstrably increased relative to other values during the initial year post-infusion, especially in situations of documented infections or febrile episodes, the value from the most proximate prior visit at which there is no documented infection or febrile episode is used.
Levels must exceed the following values at the latest documented assessment (≥18 months post-infusion): hemoglobin ≥8 g/dL (National Cancer Institute-Common Terminology Criteria Adverse Events (NCI-CTCAE) v5 Grade <3).
Measured: 24 months
Hematologic Stability- Neutrophils
Hematologic stability demonstrated by neutrophil count remaining ≥75% of 6-month post-infusion nadir value, in the absence of Myelodysplastic Syndrome (MDS), Acute Myeloid Leukemia (AML), and/or progressive cytogenetic and/or molecular abnormalities known to be associated with MDS/AML at 18 months post-infusion with a confirmatory result at 21 or 24 months. In settings in which 6-month post-infusion neutrophil or platelet values are demonstrably increased relative to other values during the initial year post-infusion, especially in situations of documented infections or febrile episodes, the value from the most proximate prior visit at which there is no documented infection or febrile episode is used.
Levels must exceed the following values at the latest documented assessment (≥18 months post-infusion): neutrophils ≥500/µL (NCI-CTCAE v5 Grade <4).
Measured: 24 months
Hematologic Stability- Platelets
Hematologic stability demonstrated by Platelet count remaining ≥75% of 6-month post-infusion nadir value, in the absence of Myelodysplastic Syndrome (MDS), Acute Myeloid Leukemia (AML), and/or progressive cytogenetic and/or molecular abnormalities known to be associated with MDS/AML at 18 months post-infusion with a confirmatory result at 21 or 24 months. In settings in which 6-month post-infusion neutrophil or platelet values are demonstrably increased relative to other values during the initial year post-infusion, especially in situations of documented infections or febrile episodes, the value from the most proximate prior visit at which there is no documented infection or febrile episode is used.
Levels must exceed the following values at the latest documented assessment (≥18 months post-infusion): platelets ≥25,000/µL (NCI-CTCAE v5 Grade <4).
Measured: 24 months
Phenotypic Correction
In patients who were not mosaic in Peripheral Blood T-cells prior to gene therapy, the level of phenotypic correction of hematopoietic cells as determined by a T-lymphocyte chromosomal fragility assay targeting a decrease from ≥50% pre-infusion levels to <50% in Peripheral Blood T-cells with DEB-induced aberrations and a ≥20% decrease from pre-treatment levels at ≥182 months post-infusion with a confirmatory result at 21 or 24 months
Measured: 24 months
Safety of RP-L102
Analysis of Treatment-emergent adverse events (TEAEs), and serious adverse events (SAEs), for the duration of the study.
Measured: 3 years
Tolerability of RP-L102
Analysis of Treatment-emergent adverse events (TEAEs), and serious adverse events (SAEs), for the duration of the study.
Measured: 3 years
Overall survival
Survival at end of study
Measured: 3 years
Bone Marrow Failure Free Survival
Bone Marrow Failure Free at end of study
Measured: 3 years
Hematological Malignancy Free Survival
Lack of Myelodysplastic Syndrome or Acute Myeloid Leukemia at end of study
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jan 2020
- Study start15 Jul 2020
- Primary completion5 May 2026 (estimated)
- Study completion5 May 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fanconi Anemia Complementation Group AStudies 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
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rocket Pharmaceuticals Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Rajni Agarwal, MD, Principal investigator, Stanford UniversityMargaret MacMillan, MD, MSc, Principal investigator, University of Minnesota
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04248439
- Sponsor's protocol ID
- RP-L102-0319
- Status last verified
- Dec 2025
- First submitted
- 24 Jan 2020
- Last updated
- 22 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2 Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A
- ClinicalTrials.gov ID
- NCT04248439
- Acronym / sponsor ID
- RP-L102-0319
- Conditions
- Fanconi Anemia Complementation Group A
- Keywords
- anemia, bone marrow failure, gene therapy
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- Rocket Pharmaceuticals Inc.Industry (pharma, biotech, devices)
- Study start
- 15 Jul 2020 (actual)
- Primary completion
- 5 May 2026 (estimated)
- Study completion
- 5 May 2026 (estimated)
- First posted
- 30 Jan 2020 (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.
The objective of this study is to assess the therapeutic efficacy of a hematopoietic cell-based gene therapy for patients with Fanconi anemia, subtype A (FA-A).
Hematopoietic stem cells from mobilized peripheral blood of patients with FA-A will be transduced ex vivo (outside the body) with a lentiviral vector carrying the FANCA gene. After transduction, the corrected stem cells will be infused intravenously back to the patient with the goal of preventing bone marrow failure.
Detailed description
This is a pediatric open-label Phase II clinical trial to assess the efficacy of a hematopoietic gene therapy consisting of autologous CD34+ enriched cells transduced with a lentiviral vector carrying the FANCA gene in subjects with FA-A.
Enriched CD34+ hematopoietic stem cells will be transduced ex vivo with the therapeutic lentiviral vector and infused via intravenous infusion following transduction without any prior conditioning.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| RP-L102 | Experimental | Biological: RP-L102RP-L102 is CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Fanconi anemia as diagnosed by chromosomal fragility assay of cultured lymphocytes in the presence of DEB or a similar DNA-crosslinking agent
- Subject of the complementation group FA-A
- Minimum age: 1 year and a minimum weight of 8 kg
- At least 30 CD34+ cells/μL are determined in one bone marrow (BM) aspiration within 3 months prior to CD34+ cell collection OR
- 6. Provide informed consent in accordance with current legislation 7. Women of childbearing age must have a negative urine pregnancy test at the baseline visit, and accept the use of an effective contraception method during participation in the trial
Key exclusion criteria (19 listed)
- Subjects with an available and medically eligible HLA-identical sibling donor.
- Evidence of myelodysplastic syndrome or leukemia, or cytogenetic abnormalities other than those reported as variant(s) of normal in BM aspirate analysis. This assessment should be made by valid studies conducted within the 3 months before the subject commences the stem cell mobilization/collection procedures of the clinical trial.
- Subjects with somatic mosaicism associated with stable or improved counts in all PB cell lineages. (If T-lymphocyte chromosomal fragility analysis indicates potential mosaicism, a medically significant decrease (≥1 NCI CTCAE grade) in at least one blood lineage over time must be documented to enable eligibility, as should <5% resistance of bone marrow colony forming cells (CFCs) to 10nM MMC; whenever possible potential mosaicism should also be evaluated by gene sequencing of MMC-resistant CFCs).
- Lansky performance status ≤60%.
- Any concomitant disease or condition that, in the opinion of the Principal Investigator, renders the subject unfit to participate in the study.
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 |
|---|---|---|
| RP-L102CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene | Biological | RP-L102 |
Primary outcome
Bone Marrow (BM) Colony-Forming Cell (CFC) Mitomycin-C (MMC) resistance
Time frame: 21 months
Bone Marrow (BM) colony-forming cell (CFC) mitomycin-C (MMC) resistance ≥20% at 12 months post-infusion with a confirmatory result at 18 or 21 months (MMC at 10 nM concentration)
10 secondary outcomes
Genetic Correction
Time frame: 24 months
Hematologic Stability- Hemoglobin
Time frame: 24 months
Hematologic Stability- Neutrophils
Time frame: 24 months
Hematologic Stability- Platelets
Time frame: 24 months
Phenotypic Correction
Time frame: 24 months
Safety of RP-L102
Time frame: 3 years
Tolerability of RP-L102
Time frame: 3 years
Overall survival
Time frame: 3 years
Bone Marrow Failure Free Survival
Time frame: 3 years
Hematological Malignancy Free Survival
Time frame: 3 years
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 22 Dec 2025.
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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.
Rajni Agarwal, MD principal investigator
Stanford University
Margaret MacMillan, MD, MSc principal investigator
University of Minnesota
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing RP-L102 in people with Fanconi Anemia Complementation Group A, run by Rocket Pharmaceuticals Inc. at 2 sites in United States.
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 5 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: under way, not looking for participants, as of the sponsor's last update on 22 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. 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?
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?
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?
Bone Marrow (BM) Colony-Forming Cell (CFC) Mitomycin-C (MMC) resistance (time frame: 21 months). 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 22 Dec 2025.