Clinical Trials and Research Opportunities

New treatments and therapies for people with Fanconi anemia are not possible without research. Listed below are current clinical trials and research opportunities available. Visit the links listed to learn more about eligibility and protocol descriptions. If you’re interested in participating in a clinical trial, scholarships are available from FARF in order to help offset the cost of transportation and housing. Please contact us at .(JavaScript must be enabled to view this email address) or 541-687-4658.

We are proud to partner with the Be The Match Jason Carter Clinical Trials Search & Support (CTSS), an organization that helps individuals learn about and potentially participate in clinical trials.​ Click the logo to view more information about FA clinical trials. Work with a patient navigator to help you understand a trial you may be interested in, and how trials work in general.

Be The Match
How to find & understand clinical trials

Reducing the burden of squamous cell carcinoma in Fanconi anemia

Cancer treatment options for individuals with FA are limited due to the DNA repair defects associated with the disease. Therefore, there is an urgent need to develop early surveillance and screening modalities to reduce the burden of advanced disease. This research project will focus on the four following aims:

  1. Non-invasive oral brush biopsy technology, with combined cytologic evaluation, will be implemented as an early detection screening tool. This program will be available for medical professionals who will perform brush biopsy screening for people with FA.
  2. Clinical patient data will be incorporated into a digital platform and analyzed to identify potential cancer-promoting risk factors in the FA population.
  3. Educational programs focused on early surveillance will be developed to empower individuals with FA to manage their own care in adulthood.
  4. Collaborative molecular research projects will focus on the analysis of clinical biological materials collected from the study to develop an understanding of the natural history of squamous cell cancers in individuals with FA.

Contact: FARF | 541-687-4658 | .(JavaScript must be enabled to view this email address)

Learn about the trial to prevent oral cancers

Antibody-Based Conditioning with TCRab T-cell/CD19 B-cell Depleted Allogeneic Transplantation for Fanconi Anemia Patients with Cytopenias

Stanford University, Stanford, CA | Active, currently recruiting participants

Open to Fanconi Anemia patients of all subtypes, ages 2+, who have developed cytopenias and do not have an HLA-identical matched sibling donor for bone marrow transplant (BMT). Patient must not be on other experimental therapies at the time and not have active cancers or concerns for high-risk bone marrow disease.

The objective of the study is to prepare the patient’s body before a stem cell transplant by using an antibody-drug instead of radiation/chemotherapy to make transplants safer. To prevent rejection of the donor cells, prior to BMT, patients will be treated with standard immune suppression and an antibody-drug, JSP191, in place of genotoxic irradiation or busulfan treatment. Blood stem cells are collected from healthy donors and purified to remove problematic T-cells. These healthy stem cells are then given to the patient by intravenous infusion.

Contact: Bone Marrow Failure Program Team | 650-497-8953 | .(JavaScript must be enabled to view this email address)

Nutrition & Metabolism in Fanconi Anemia

Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

This study is actively recruiting and consenting participants with an anticipated start date in late June/early July. Participants must be 12+ years of age and those with diabetes or need for insulin are ineligible for the study. This clinical trial uses tracing experiments to show how efficiently and effectively individuals with FA are able to utilize glucose versus fat and protein for energy. Studies have shown that individuals with FA break down fat and muscle at a quick rate, making it difficult for them to maintain weight or build muscle. Studies have also shown that individuals have low levels of Carnitine, known to combat DNA damage. Poorly functioning metabolic systems influence physical appearance, immune function, host defense, and brain energy. Also to be considered are the equally significant impacts on the psychological, social, and emotional wellbeing of individuals with these metabolic challenges. The results obtained from this trial could lead to treatment options that combat body mass index issues, including those pertaining to muscle mass, and could positively impact the general psychological and emotional resilience and wellbeing of the FA population.

Contact: Lindsey Romick-Rosendale | 513-517-0256 | .(JavaScript must be enabled to view this email address)

Quercetin in Children with Fanconi Anemia; a Pilot Study

Children’s Hospital Medical Center, Cincinnati, OH | currently recruiting participants (pre-transplant)

This is a pilot study aiming to assess feasibility, toxicity and pharmacokinetics of oral quercetin (a dietary supplement) therapy in patients with FA and is a first step towards a clinical study of the efficacy of quercetin therapy in delaying progression of bone marrow failure in FA.

Contact: Stephanie Edwards | 513-636-9292 | .(JavaScript must be enabled to view this email address)

Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients with FA

Cincinnati Children’s Hospital Medical Center, Cincinnati, OH | currently recruiting participants

In the lab, quercetin, a natural antioxidant, kills tumor cells in FA head and neck squamous cell carcinoma (SCC) cell lines and also prevents development of SCC tumors in non-FA mice. Based on these strong and promising data this study will look at the beneficial effects of oral quercetin treatment for 2 years, in post-transplant patients with FA. It is hoped that treatment with quercetin will result in decreased oxidative stress and ongoing DNA damage of the mucosa, leading to the prevention of, or at least delay the development of squamous cell carcinoma.

Contact: Stephanie Edwards | 513-636-9292 | .(JavaScript must be enabled to view this email address)

Cancer in Inherited Bone Marrow Failure Syndromes

National Cancer Institute (NCI), Bethesda, MD | currently recruiting participants

This is a study to provide information regarding cancer rates and types in inherited bone marrow failure syndromes (IBMFS), including Fanconi anemia. It is a natural history study, with questionnaires, clinical evaluations, clinical and research laboratory tests, review of medical records, and cancer surveillance.

Contact: Blanche P. Alter | 240-276-7239 | .(JavaScript must be enabled to view this email address)

Natural History of FANCD1/BRCA2

National Cancer Institute (NCI), Bethesda, MD | currently recruiting participants

We previously determined that published cases with two mutated FANCD1/BRCA2 genes appeared to have a very high risk of cancer before age 6. We are now aware of individuals with these mutations who are much older and have not had cancer. In order to determine the natural history of patients with FA associated with mutations in FANCD1/BRCA2, we have created a subgroup within the National Cancer Institute study of Cancer in Inherited Bone Marrow Failure Syndromes (above).

Contact IBMFS Study Team | 1-800-518-8474, or email .(JavaScript must be enabled to view this email address)

International Fanconi Anemia Registry (IFAR)

IFAR is a research study that began at Rockefeller University in New York City in 1982. The purpose of the IFAR is to study the nature, diagnosis, and treatment of individuals with FA. Information collected in this study will help researchers better understand FA and be able to better diagnose and treat the condition. We enroll patients at any stage of the disease but many recent studies are focusing on understanding cancer development in FA patients. Please contact us if you have been diagnosed with cancer or pre-cancer lesions.

Contact: Agata Smogorzewska | 212-327-8612 | .(JavaScript must be enabled to view this email address)

Eltrombopag for People with Fanconi Anemia

National Heart, Lung, and Blood Institute (NHLBI), Bethesda, MD | currently recruiting

Objective: To find out if a new drug, eltrombopag, is effective in people with Fanconi anemia and to know how long the drug needs to be given to improve blood counts.

Contact: Evette N Barranta | 301-827-4421 | .(JavaScript must be enabled to view this email address)

Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A (FANCOLEN-1)

Hospital Infantil Universitario Niño Jesús, Madrid, Spain & Hospital Vall d’Hebron, Barcelona, Spain | Active; not currently recruiting participants

This is a clinical trial to evaluate the safety and efficacy of a hematopoietic gene therapy procedure with an orphan drug consisting of a lentiviral vector carrying the FANCA gene for patients with Fanconi anemia of subtype A.

Contact: Julian Sevilla | +34 915035938 | .(JavaScript must be enabled to view this email address)

Gene Therapy for Fanconi Anemia, Complementation Group A

Stanford University, Stanford, United States | Active; currently recruiting participants

The objective of this study is to assess the therapeutic efficacy of 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.

Contact: Elisabeth Merkel | .(JavaScript must be enabled to view this email address)

A Study of Prexasertib in Patients with Solid Tumors with Replicative Stress or Homologous Repair Deficiency

Dana-Farber Cancer Institute, Boston, MA | Active, not currently recruiting participants

This is a research study of a checkpoint kinase 1 (CHK1) inhibitor as a possible treatment for advanced solid tumors that harbor genetic alterations in the homologous repair (HR) pathway or with genetic alterations that indicate replication stress.

Contact: Geoffrey Shapiro | 617-632-4942 | .(JavaScript must be enabled to view this email address)

Trial vs. Treatment

It is critical to understand the difference between medical treatments and clinical trials. A medical treatment is a regimen specific to an individual patient and his/her condition, administered by doctors. A trial tests a potential drug, procedure, or medical device in people. Participants in trials play an integral role in determining the safety and efficacy of drugs or procedures. It is important to remember that clinical trials are meant for research, not to administer proven medical care.

Even though a medication may be approved for one condition or disease, it must be tested in the new population it is meant to help. It’s vital to conduct research in many people, because people may respond differently to the same treatment. Self-treatment with medications that have not been approved for a specific population/condition can be harmful to the individual; it may also hinder knowledge of the appropriate therapeutic use and benefit(s) of the medication. Always consult your physician before taking any action regarding medications or treatments.