Gene Therapy for Fanconi Anemia

Recruiting at 1 trial location

Overseen By Clinical Information

Age: Any Age

Sex: Any

Trial Phase: Phase 2

Sponsor: Rocket Pharmaceuticals Inc.

Must not be taking: Androgens, Investigational therapy

Disqualifiers: HLA-identical donor, Myelodysplastic syndrome, Leukemia, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

Duration: 6 months

5 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

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.

Will I have to stop taking my current medications?

The trial requires that you stop taking androgens (like danazol or oxymetholone) and any other investigational therapy for treating or preventing Fanconi anemia-related bone marrow failure.

Is gene therapy for Fanconi anemia safe?

Gene therapy for Fanconi anemia has been tested in a few small studies and appears to be safe, with no serious side effects reported in the short term. However, more research is needed to understand its long-term safety. ^{1 2 3 4 5}

How is the treatment RP-L102 for Fanconi Anemia different from other treatments?

RP-L102 is a gene therapy that uses the patient's own stem cells, modified to correct the genetic defect causing Fanconi Anemia, potentially avoiding complications associated with traditional bone marrow transplants from donors. This approach offers a unique advantage by providing a selective growth advantage to corrected cells, leading to improved blood cell production without the need for donor cells. ^{2 6 7 8 9}

What data supports the effectiveness of the treatment RP-L102 for Fanconi Anemia?

Research shows that gene therapy can correct the faulty genes in Fanconi Anemia patients' stem cells, leading to improvements in blood cell production. Studies have demonstrated that gene-corrected cells can safely be reinfused into patients, resulting in temporary improvements in blood counts, suggesting potential effectiveness of treatments like RP-L102. ^{2 5 6 10 11}

Who Is on the Research Team?

Rajni Agarwal, MD

Principal Investigator

Stanford University

Margaret MacMillan, MD

Principal Investigator

University of Minnesota

Are You a Good Fit for This Trial?

This trial is for patients with Fanconi anemia subtype A, confirmed by a specific blood test. Participants must be at least 1 year old and weigh over 8 kg, have certain levels of blood cells, and women who can bear children must use effective contraception. People with stable or improving blood counts due to mosaicism, other serious health issues, pregnant or breastfeeding women, those with suitable sibling donors or current cancer are excluded.

Inclusion Criteria

At least 30 CD34+ cells/μL are determined in one bone marrow (BM) aspiration within 3 months prior to CD34+ cell collection

I belong to the FA-A complementation group.

Provide informed consent in accordance with current legislation

Exclusion Criteria

I need dialysis for my kidney condition.

Any concomitant disease or condition that, in the opinion of the Principal Investigator, renders the subject unfit to participate in the study

Pregnant or breastfeeding women

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Hematopoietic stem cells from mobilized peripheral blood are transduced ex vivo with a lentiviral vector carrying the FANCA gene and infused intravenously back to the patient

6 months

Follow-up

Participants are monitored for safety and effectiveness after treatment, including hematologic stability and genetic correction

24 months

Long-term follow-up

Participants are monitored for overall survival and bone marrow failure free survival

3 years

What Are the Treatments Tested in This Trial?

Interventions

• RP-L102

Trial Overview The study tests RP-L102 gene therapy in Fanconi anemia subtype A patients. It involves taking the patient's own stem cells from their blood, adding a correct version of the FANCA gene outside the body using a virus as a carrier, then infusing these corrected cells back into the patient to help prevent bone marrow failure.

How Is the Trial Designed?

Group I: RP-L102 Experimental Treatment 1 Intervention

RP-L102 is CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene

Who Is Running the Clinical Trial?

Rocket Pharmaceuticals Inc.

Lead Sponsor

Trials

17

Recruited

430+

Published Research Related to This Trial

Gene therapy (GT) appears to be a safe procedure for improving bone marrow function in patients with Fanconi anemia, as shown in a systematic review of three clinical trials involving nine patients, with no serious adverse effects reported after one year.

While GT led to stabilization in blood lineages, the limited number of studies and short follow-up duration highlight the need for further research to understand the long-term clinical outcomes and potential of GT as a standard treatment for Fanconi anemia.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions. Shafqat, S., Tariq, E., Parnes, AD., et al.[2022]

Citations

1. United States pubmed.ncbi.nlm.nih.gov

Advances in Gene Therapy for Fanconi Anemia. [2019]

2. United States pubmed.ncbi.nlm.nih.gov

Overnight transduction with foamyviral vectors restores the long-term repopulating activity of Fancc-/- stem cells. [2023]

3. United States pubmed.ncbi.nlm.nih.gov

A simplified approach to improve the efficiency and safety of ex vivo hematopoietic gene therapy in fanconi anemia patients. [2012]

4. China pubmed.ncbi.nlm.nih.gov

[Cytogenetic study in eight cases of Fanconi anemia]. [2006]

5. United States pubmed.ncbi.nlm.nih.gov

Stem cell collection and gene transfer in Fanconi anemia. [2017]

6. Saudi Arabia pubmed.ncbi.nlm.nih.gov

Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions. [2022]

7. United States pubmed.ncbi.nlm.nih.gov

Gene therapy for fanconi anemia. [2012]

8. United States pubmed.ncbi.nlm.nih.gov

Retroviral-mediated transduction of the fanconi anemia C complementing (FACC) gene in two murine transplantation models. [2012]

9. United Arab Emirates pubmed.ncbi.nlm.nih.gov

Stem Cell Genetic Therapy for Fanconi Anemia - A New Hope. [2018]

10. United States pubmed.ncbi.nlm.nih.gov

Stem cell gene therapy for fanconi anemia: report from the 1st international Fanconi anemia gene therapy working group meeting. [2023]

11. United States pubmed.ncbi.nlm.nih.gov

Development of lentiviral vectors with optimized transcriptional activity for the gene therapy of patients with Fanconi anemia. [2012]