Fanconi Anemia Complementation Group ANCT04437771
Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
An observational study of Fanconi Anemia Complementation Group A and Fanconi Anemia, run by Rocket Pharmaceuticals Inc. at 1 site in Spain.
Trial summary
This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial. After completion of the FANCOLEN-I study, eligible subjects will be followed for a total of 15 years post gene therapy treatment. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fanconi Anemia Complementation Group A, Fanconi Anemia
- What is being tested?
- Safety and efficacy assessments
- How many people
- 9 participants
- Where
- 1 siteSpain
- Study dates
- 1 Jun 2020to 17 Jan 2034
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with Fanconi anemia subtype A who have been treated with ex vivo gene therapy product in FANCOLEN-I study
Who may be able to join
- Enrolled in the FANCOLEN-I study
- Treated with gene therapy in the FANCOLEN-I study
- Able to adhere to the study visit schedule and protocol requirements
- Provided written informed consent and, as applicable, assent to participate
Who cannot join
- There are no exclusion criteria for this study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Long-Term Follow-up: Phase I/II Clinical Study to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Patients With Fanconi Anaemia Subtype A: FANCOLEN-I
This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial. After completion of the FANCOLEN-I study, eligible subjects will be followed for a total of 15 years post gene therapy treatment. No investigational drug product will be administered during this study.
Read the detailed description
This long-term follow-up protocol will evaluate the long term safety and efficacy of the infusion of autologous CD34+ cells transduced with lentiviral vector (LV) carrying the FANCA gene.
- Being tested
- Safety and efficacy assessments
- Keywords
- gene therapy, anaemia, autologous hematopoeitic stem cell transplant, safety, bone marrow failure, genetic diseases, anemia
- Medical subject headings
- Fanconi Syndrome, Fanconi Anemia, Anemia, Bone Marrow Failure Disorders, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Safety and efficacy assessmentsOther
Long term disease and gene therapy specific safety evaluations and efficacy assessments
| Study group | Role | What they receive |
|---|---|---|
| Subjects with Fanconi Anaemia Subtype A (FA-A) | Subjects treated with ex vivo lentiviral gene therapy product in FANCOLEN-I trial and agree to participate in this long-term follow-up (LTFU) study Receives: Other: Safety and efficacy assessments |
What is being measured
The primary outcome is the main question the study is designed to answer.
Monitor long term safety of patients through blood laboratory evaluations and general health status
Evaluate long term safety following infusion of hematopoietic cells transduced with therapeutic lentiviral vector (LV)
Measured: 15 years post-drug product infusion
Long term genetic correction assessed in bone marrow and blood
Determine long term persistence of therapeutic LV in hematopoietic cells in bone marrow and blood
Measured: 15 years post-drug product infusion
Replication competent lentivirus (RCL)
Evaluate RCL in peripheral blood
Measured: 15 years post-drug product infusion
Insertion site analysis in blood
Determine long term clonality
Measured: 15 years post-drug product infusion
Phenotypic correction
Determine phenotypic correction of bone marrow and peripheral blood cells by resistance to DNA-damaging agents
Measured: 15 years post-drug product infusion
Assessment for Malignancies
Monitor for incidence of hematologic malignancies and solid organ tumors
Measured: 15 years post-drug product infusion
Hematologic stabilization
Monitor for long term stability and normalization of blood counts
Measured: 15 years post-drug product infusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jun 2020
- Study start1 Jun 2020
- Primary completion17 Jan 2034 (estimated)
- Study completion17 Jan 2034 (estimated)
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 Anemia Complementation Group AStudies of the same condition, open and under way.
- More trials run by Rocket Pharmaceuticals Inc.The 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 9 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rocket Pharmaceuticals Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04437771
- Sponsor's protocol ID
- RP-L102-0116-LTFU
- Status last verified
- Apr 2026
- First submitted
- 15 Jun 2020
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Rio P, Zubicaray J, Navarro S, Galvez E, Sanchez-Dominguez R, Nicoletti E, Sebastian E, Rothe M, Pujol R, Bogliolo M, John-Neek P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yanez RM, Alberquilla O, Diez B, Fernandez-Garcia M, Garcia-Garcia L, Ramirez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, Garcia de Andoin N, Lopez-Almaraz R, Catala A, Barquinero J, Rodriguez-Perales S, Rao G, Surralles J, Soulier J, Diaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren JA; FANCOLEN-1 gene therapy investigators. Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials. Lancet. 2025 Dec 21;404(10471):2584-2592. doi: 10.1016/S0140-6736(24)01880-4. Epub 2024 Dec 3.
PubMed 39642902
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-Term Follow-up: Phase I/II Clinical Study to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Patients With Fanconi Anaemia Subtype A: FANCOLEN-I
- ClinicalTrials.gov ID
- NCT04437771
- Acronym / sponsor ID
- RP-L102-0116-LTFU
- Keywords
- gene therapy, anaemia, autologous hematopoeitic stem cell transplant, safety, bone marrow failure, genetic diseases, anemia
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 9 participants (estimated)
- Lead sponsor
- Rocket Pharmaceuticals Inc.Industry (pharma, biotech, devices)
- Study start
- 1 Jun 2020 (actual)
- Primary completion
- 17 Jan 2034 (estimated)
- Study completion
- 17 Jan 2034 (estimated)
- First posted
- 18 Jun 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.
This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial. After completion of the FANCOLEN-I study, eligible subjects will be followed for a total of 15 years post gene therapy treatment. No investigational drug product will be administered during this study.
Detailed description
This long-term follow-up protocol will evaluate the long term safety and efficacy of the infusion of autologous CD34+ cells transduced with lentiviral vector (LV) carrying the FANCA gene.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects with Fanconi Anaemia Subtype A (FA-A) | – | Other: Safety and efficacy assessmentsSubjects treated with ex vivo lentiviral gene therapy product in FANCOLEN-I trial and agree to participate in this long-term follow-up (LTFU) study |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with Fanconi anemia subtype A who have been treated with ex vivo gene therapy product in FANCOLEN-I study
Key inclusion criteria (4 listed)
- Enrolled in the FANCOLEN-I study
- Treated with gene therapy in the FANCOLEN-I study
- Able to adhere to the study visit schedule and protocol requirements
- Provided written informed consent and, as applicable, assent to participate
Key exclusion criteria (1 listed)
- There are no exclusion criteria for this 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 |
|---|---|---|
| Safety and efficacy assessmentsLong term disease and gene therapy specific safety evaluations and efficacy assessments | Other | Subjects with Fanconi Anaemia Subtype A (FA-A) |
Primary outcome
Monitor long term safety of patients through blood laboratory evaluations and general health status
Time frame: 15 years post-drug product infusion
Evaluate long term safety following infusion of hematopoietic cells transduced with therapeutic lentiviral vector (LV)
Long term genetic correction assessed in bone marrow and blood
Time frame: 15 years post-drug product infusion
Determine long term persistence of therapeutic LV in hematopoietic cells in bone marrow and blood
Replication competent lentivirus (RCL)
Time frame: 15 years post-drug product infusion
Evaluate RCL in peripheral blood
Insertion site analysis in blood
Time frame: 15 years post-drug product infusion
Determine long term clonality
Phenotypic correction
Time frame: 15 years post-drug product infusion
Determine phenotypic correction of bone marrow and peripheral blood cells by resistance to DNA-damaging agents
Assessment for Malignancies
Time frame: 15 years post-drug product infusion
Monitor for incidence of hematologic malignancies and solid organ tumors
Hematologic stabilization
Time frame: 15 years post-drug product infusion
Monitor for long term stability and normalization of blood counts
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 13 Apr 2026.
- Derived from this study: PubMed 39642902Rio P, Zubicaray J, Navarro S, Galvez E, Sanchez-Dominguez R, Nicoletti E, Sebastian E, Rothe M, Pujol R, Bogliolo M, John-Neek P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yanez RM, Alberquilla O, Diez B, Fernandez-Garcia M, Garcia-Garcia L, Ramirez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, Garcia de Andoin N, Lopez-Almaraz R, Catala A, Barquinero J, Rodriguez-Perales S, Rao G, Surralles J, Soulier J, Diaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren JA; FANCOLEN-1 gene therapy investigators. Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials. Lancet. 2025 Dec 21;404(10471):2584-2592. doi: 10.1016/S0140-6736(24)01880-4. Epub 2024 Dec 3.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fanconi Anemia Complementation Group A and Fanconi Anemia, run by Rocket Pharmaceuticals Inc. 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 4 inclusion and 1 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 13 Apr 2026. 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.
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?
Monitor long term safety of patients through blood laboratory evaluations and general health status (time frame: 15 years post-drug product infusion). The study lists 7 primary outcomes in all. 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 NCT04437771, 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 13 Apr 2026.