Fanconi AnemiaNCT03351868
FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector
A study testing Gene-modified autologous stem cells in people with Fanconi Anemia, run by Shenzhen Geno-Immune Medical Institute at 1 site in China.
Trial summary
This is a Phase I/II clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the gene transfer clinical protocol. Read more about this study
- Who is it for?
- Ages 2 to 20 years
- Conditions the study is for
- Fanconi Anemia
- What is being tested?
- Gene-modified autologous stem cells
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteChina
- Study dates
- 1 Jun 2026to 31 Jul 2026
- Phase
- Interventional
- 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 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Diagnosis of Fanconi anemia FANCA type based on DNA sequencing and sensitivity test for chromosomal cleavage by mitomycin C or butylene oxide.
- No cytogenetic abnormalities and the proportion of myelodysplastic abnormalities does not exceed 5% within 3 months prior to stem cell collection.
- Age: ≥ 4 years.
- Karnofsky: ≥ 70%.
- ANC ≥ 5×10^8/L; PLT ≥ 2×10^10/L.
- Hemoglobin ≥ 8g/dL.
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- Proper renal and hepatic functions (ULN denotes "upper limit of normal range") with
- serum creatinine ≤ 1.5×ULN;
- serum bilirubin ≤ 3×ULN;
- AST/ALT ≤ 5×ULN.
- Pulmonary function is normal; DLCO > 50%.
- Written, informed consent obtained prior to any study-specific procedures.
Who cannot join
- Diagnosis of active malignant disease or myelodysplastic syndrome.
- Diagnosis of myeloid leukemia.
- Pregnant or lactating females.
- Existence of an available HLA-identical related donor.
- Subject infected with HBV (HBsAg positive), HIV (HIV antibody positive), HTLV (HTLV antibody positive), Treponema pallidum antibody positive or TB culture positive.
- Patients, in the opinion of investigators, may not be eligible or not able to comply with the study.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Gene Transfer for Fanconi Anemia Using a Self-inactivating Lentiviral Vector
This is a Phase I/II clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the gene transfer clinical protocol.
Read the detailed description
Fanconi anemia is a rare, inherited disease that is caused by a gene defect and that primarily affects an individual's bone marrow, resulting in decreased production of blood cells. The major problem for most patients is aplastic anemia, the blood counts for red blood cells, white blood cells, and platelets are low. In addition, some patients have physical defects usually involving the skeleton and kidneys. Fanconi anemia is typically diagnosed in childhood, and there is a high fatality rate. Hematopoietic stem cell transplantation (HSCT) is a common treatment for Fanconi anemia. However, there are many risks associated with HSCT including rejection of the transplanted cells and graft-versus-host disease.
The primary objectives are to evaluate the safety of the self-inactivating lentiviral vector, the ex vivo gene transfer clinical protocol and the efficacy of immune reconstitution in patients overcoming immune abnormalities present at the time of treatment, assessment of gene correction efficiency, and finally the long-term correction of Fanconi anemia associated disease symptoms.
- Conditions
- Fanconi Anemia
- Being tested
- Gene-modified autologous stem cells
- Keywords
- Fanconi anemia, Lentiviral vector, FANCA, Gene
- Medical subject headings
- Fanconi Anemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gene-modified autologous stem cellsGenetic
Infusion for 5x10^6~1x10^7 per kilogram of body weight of gene-modified cells; or more infusions depending on the circumstances
| Study group | Role | What they receive |
|---|---|---|
| Gene-modified autologous stem cells | Experimental | Autologous hematopoeitic stem cells and mesenchymal stem cells transduced with lentiviral vector carrying the FANCA gene ex vivo Receives: Genetic: Gene-modified autologous stem cells |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety in patients using CTCAE version 4.0 standard to evaluate the level of adverse events
Physiological parameter (measuring cytokine response, fever, symptoms)
Measured: 6 months
Secondary outcomes (2)
Treatment responses
Blood routine indexes will be obtained before and after treatment. Objective response, such as complete response (CR), partial response (PR), stable disease (SD), or progressive disease (PD) will be assessed by the Response Evaluation Criteria in Solid Tumors (RECIST) v1.1 criteria
Measured: 1 year
Quality of life
Quality of life will be measured using the Functional Assessment of Cancer Therapy-General (FACT-G) before and after treatment.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Nov 2017
- Study start1 Jun 2026
- Primary completion1 Jul 2026
- Study completion31 Jul 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fanconi AnemiaStudies of the same condition, open and under way.
- More trials run by Shenzhen Geno-Immune Medical InstituteThe 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 N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shenzhen Geno-Immune Medical Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lung-Ji Chang, Shenzhen Geno-Immune Medical Institute
- Investigators
- Lung-Ji Chang, Ph.D, Principal investigator, Shenzhen Geno-Immune Medical Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03351868
- Sponsor's protocol ID
- GIMI-IRB-17021
- Status last verified
- Nov 2026
- First submitted
- 20 Nov 2017
- Last updated
- 3 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gene Transfer for Fanconi Anemia Using a Self-inactivating Lentiviral Vector
- ClinicalTrials.gov ID
- NCT03351868
- Acronym / sponsor ID
- GIMI-IRB-17021
- Conditions
- Fanconi Anemia
- Keywords
- Fanconi anemia, Lentiviral vector, FANCA, Gene
- Study type
- Interventional
- Recruitment status
- Terminated
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Shenzhen Geno-Immune Medical InstituteUniversity, hospital or other
- Study start
- 1 Jun 2026 (actual)
- Primary completion
- 1 Jul 2026 (actual)
- Study completion
- 31 Jul 2026 (actual)
- First posted
- 24 Nov 2017 (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 Phase I/II clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the gene transfer clinical protocol.
Detailed description
Fanconi anemia is a rare, inherited disease that is caused by a gene defect and that primarily affects an individual's bone marrow, resulting in decreased production of blood cells. The major problem for most patients is aplastic anemia, the blood counts for red blood cells, white blood cells, and platelets are low. In addition, some patients have physical defects usually involving the skeleton and kidneys. Fanconi anemia is typically diagnosed in childhood, and there is a high fatality rate. Hematopoietic stem cell transplantation (HSCT) is a common treatment for Fanconi anemia. However, there are many risks associated with HSCT including rejection of the transplanted cells and graft-versus-host disease.
The primary objectives are to evaluate the safety of the self-inactivating lentiviral vector, the ex vivo gene transfer clinical protocol and the efficacy of immune reconstitution in patients overcoming immune abnormalities present at the time of treatment, assessment of gene correction efficiency, and finally the long-term correction of Fanconi anemia associated disease symptoms.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Gene-modified autologous stem cells | Experimental | Genetic: Gene-modified autologous stem cellsAutologous hematopoeitic stem cells and mesenchymal stem cells transduced with lentiviral vector carrying the FANCA gene ex vivo |
Who may qualify
- Ages
- 2 to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (12 listed)
- Diagnosis of Fanconi anemia FANCA type based on DNA sequencing and sensitivity test for chromosomal cleavage by mitomycin C or butylene oxide.
- No cytogenetic abnormalities and the proportion of myelodysplastic abnormalities does not exceed 5% within 3 months prior to stem cell collection.
- Age: ≥ 4 years.
- Karnofsky: ≥ 70%.
- ANC ≥ 5×10^8/L; PLT ≥ 2×10^10/L.
Key exclusion criteria (6 listed)
- Diagnosis of active malignant disease or myelodysplastic syndrome.
- Diagnosis of myeloid leukemia.
- Pregnant or lactating females.
- Existence of an available HLA-identical related donor.
- Subject infected with HBV (HBsAg positive), HIV (HIV antibody positive), HTLV (HTLV antibody positive), Treponema pallidum antibody positive or TB culture positive.
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 |
|---|---|---|
| Gene-modified autologous stem cellsInfusion for 5x10^6~1x10^7 per kilogram of body weight of gene-modified cells; or more infusions depending on the circumstances | Genetic | Gene-modified autologous stem cells |
Primary outcome
Safety in patients using CTCAE version 4.0 standard to evaluate the level of adverse events
Time frame: 6 months
Physiological parameter (measuring cytokine response, fever, symptoms)
2 secondary outcomes
Treatment responses
Time frame: 1 year
Quality of life
Time frame: 1 year
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2026.
- 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.
Lung-Ji Chang, Ph.D principal investigator
Shenzhen Geno-Immune Medical Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Gene-modified autologous stem cells in people with Fanconi Anemia, run by Shenzhen Geno-Immune Medical Institute at 1 site in China.
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 12 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: stopped early, as of the sponsor's last update on 3 Nov 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 China. 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?
The study was stopped early. Results are not available in the source record.
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?
Safety in patients using CTCAE version 4.0 standard to evaluate the level of adverse events (time frame: 6 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 3 Nov 2026.