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.

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. Because patients with FA are particularly sensitive to chemotherapy and radiation, which are traditionally used in transplants, we tailor our conditioning to reduce the use of these agents. Using a combination of low-dose chemotherapy and low-dose radiation while shielding vital organs from the radiation, we have exceptional transplant outcomes. We are also developing methods to eliminate alkylating chemotherapy and radiation, and recently published the successful results of the first clinical trial with reduced-intensity antibody-based conditioning. This trial has had promising results, and we are making additional adjustments to help patients further in the future, including through reducing use of the antibody..
• Graft manipulation. One way to increase the likelihood of stem cells growing quickly after transplant and decrease the risk of side effects like GvHD is to manipulate the graft to increase the number of stem cells and eliminate undesirable immune cells that cause GvHD. Our center has unique expertise in manipulating grafts, using a technique called TCR alpha/beta T-cell/CD19 B-cell depleted stem cell transplant. For patients without matched sibling donors, we have adopted this graft manipulation as our hospital’s standard approach to care for patients with certain genetic conditions, including FA. By using 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 to further minimize risks.

Prenatal counseling and treatment

As FA is a genetic disease, it most often results from mutations that are passed down by parents. We offer genetic counseling, family planning, and in vitro fertilization to assist in preventing FA from being passed on. Additionally, during pregnancy, our multidisciplinary team can assist with prenatal testing and counseling if there is a concern for FA in the developing fetus. For families with a prenatal FA diagnosis, we have been developing prenatal treatment approaches using maternal bone marrow cells that can be transplanted in utero into the fetus without any conditioning. We have a clinical trial in development to enable preventive treatment of FA before birth using this approach.

Innovative cancer treatments

Fanconi anemia also 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 who 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 of 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 family through IVF and select for non-FA, HLA-matched embryos to enable potential future matched sibling bone marrow transplants.

Alternative treatments in development

Our physicians and researchers are working on many new therapies that, while not currently available, will hopefully be an option for patients in the near future.

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, our group has assisted in developing 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.

Gene therapy

For Fanconi patients with subtype A (FA-A), we previously offered an investigative gene therapy 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 of patients. The goal of this gene therapy is to enable the corrected blood stem cells to grow normally, thereby avoiding or delaying bone marrow failure in children. We obtained promising results in our recent clinical trials showing the safety of this treatment as well as early efficacy. While this treatment is not currently available, we hope to be able to offer it or other gene therapy treatments to more patients in the future.