Treatments for Fanconi Anemia

While we provide exceptional traditional treatments for Fanconi anemia (FA), including comprehensive disease monitoring, growth factor therapies, blood transfusions, and stem cell transplants, we are especially proud to also offer leading-edge and novel investigational treatments for FA.  

Unique research-driven treatments

Personalized diagnostics and decision making

We are one of a few programs in the nation to conduct diagnostic testing to understand the complete genetic cause of FA in your child, and we additionally encourage detailed testing to understand the full extent of disease in your child’s blood and bone marrow. This information can then be used to tailor our treatments specific to your child, homing in on exactly what care your child needs at each step throughout his or her medical journey.

Gene therapy

If your child has subtype A (FA-A), we offer an investigative treatment that is intended to reverse the root cause of the blood disorders associated with FA by placing an intact normal copy of the FANCA gene (the gene that causes FA in a majority of patients) inside the blood stem cells. The goal of the gene therapy is to enable the corrected blood stem cells to grow normally, thereby avoiding or delaying bone marrow failure your child. We have obtained promising results in both our Phase 1 and Phase 2 trials, showing the safety of this treatment.

New oral medicines

We are studying the investigational use of alternative oral medicines with the hope of improving the performance of the blood cells and preventing cancer. For example, we recently received FDA approval for a clinical trial to use a drug called an ALDH activator, specifically FP-045, in FA patients to test if it can restore stem cells to normal function and prevent damage.

Novel approaches to stem cell transplants

Stem cell transplants (sometimes called bone marrow transplants) are the only recognized cure for FA. We take a unique approach to transplants, including:

• Exceptional planning and monitoring. Our program has decades of expertise in transplanting patients with FA. We carefully tailor treatment regimens to your child, considering their disease state and donor options. We pay close attention to detail before, during, and after the transplant to ensure excellent outcomes, and our center has a wide variety of innovative treatments and outstanding subspeciality teams available if issues such as graft-versus-host disease (GvHD) or infections unexpectedly arise.
• Alternatives for conditioning. Conditioning is an essential part of the preparation for a stem cell transplant. Traditionally, conditioning involves chemotherapy with or without radiation therapy. We tailor our conditioning for FA to reduce the use of these agents and prefer to use a combination of low-dose chemotherapy and radiation. We are also developing methods to eliminate alkylating chemotherapy and radiation altogether. Our center has an innovative clinical trial that recently opened with antibody-based conditioning using JSP191, a unique drug directed against the diseased stem cells, which has been used to treat other diseases by our program with no toxicity concerns.
• Graft manipulation. For years, our center has been performing different types of investigational graft manipulation (methods to enhance engraftment—the act of transplanted stem cells growing and proliferating, while minimizing toxicity concerns such as GvHD). We have adopted these graft manipulations as our hospital’s standard approach to care for patients with certain genetic conditions, including FA. In investigative graft manipulation for stem cell transplants in children, we adjust the elements of donor cells to make them safer. For example, we perform a new specialized graft manipulation called TCR alpha/beta T-cell/CD19 B-cell depleted haploidentical stem cell transplant to increase the chance of transplantation success. This innovative transplant uses a partially matched donor (often a parent) to expand the donor pool and bring children to transplant more quickly. The immune system’s fighter cells (TCR alpha/beta T cells) are removed from the donor stem cells, making it less likely that the graft will attack the child’s body and cause GvHD. Because we can use a child’s parents or siblings for this approach, we also have full control of the collection process to ensure an optimal stem cell graft and remove the need for graft shipment.

Innovative cancer treatments

Fanconi anemia puts your child at a higher risk for cancers, especially leukemia, a blood cancer. While our goal is to prevent such cancers, we also offer the very latest research-driven cancer treatments for patients that do unfortunately develop various cancers, and we closely monitor our patients to be able to treat these as early as possible.

Traditional treatments

Standard monitoring

In addition to providing detailed disease assessments and monitoring, we make sure to keep a close eye on how well your child’s body is coping with FA and when to advance treatment with standard testing following the latest FA guidelines.

Standard medications and blood transfusions 

Sometimes, medicines are given to improve the function of blood cells and help bone marrow cells maintain normal function (e.g., hormone growth factors). Similarly, blood transfusions can be given to boost the blood system. We provide transfusions for families as needed while encouraging stem cell transplants and other more lasting treatments.

Standard bone marrow transplantation

We encourage and provide detailed donor searches for your child at diagnosis to understand potential transplant options. If your child is fortunate to have a matched sibling donor, we also perform bone marrow transplants when necessary and take special care when we extract stem cells from donors to ensure the best results for both your children.

If your child doesn’t have a matched sibling donor, we can use stem cells from other family members or unrelated donors with excellent results through graft manipulation. In collaboration with our reproductive endocrinologists, we also offer preimplantation genetic testing for those families that wish to expand their families through IVF and select for non-FA, HLA-matched embryos to enable potential future matched sibling bone marrow transplants.