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.
Participants must have a diagnosis of Fanconi anemia, subtype A (FA-A), ages one year and older, weighing 8kg or more, without a medically eligible HLA-identical sibling donor. More information on blood count ranges to be eligible for the study as well as exclusion criteria available in study information.
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.
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.
Available to Fanconi anemia patients of all ages who are able to take enteral medication. See study information below for exclusion criteria.
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..
Eligibility includes people with Fanconi anemia, ages 2 years or older, weighing greater than 10kg, with reduced blood cell counts defined as clinically-significant cytopenias. See study information for details regarding cytopenias as well as exclusion criteria.
Based on clinical and pre-clinical studies, the team hypothesizes that Eltrombopag (EPAG) will improve peripheral blood cell counts in patients with FA, thus positively affect morbidity and mortality. Of particular interest for patients with FA is the observation that EPAG also improves the repair of double strand DNA breaks, a mechanism that is impaired in patients with FA. The objective of this study is to determine if EPAG is effective in FA patients and the length of treatment needed to improve blood counts.
Open to individuals with Fanconia anemia, ages 15 years and older.
Due to limited cancer treatment options for individuals with FA, 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 non-invasive oral brush biopsy technology, with combined cytologic evaluation, being 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. Educational programs focused on early surveillance will also be developed to empower individuals with FA to manage their own care in adulthood. 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. Clinical patient data will be incorporated into a digital platform and analyzed to identify potential cancer-promoting risk factors in the FA population.
Available to Fanconi anemia patients ages 2 years and older, who are able to take enteral medication, see study information for exclusion criteria.
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.
Open to all individuals with Fanconi Anemia.
The Fanconi Anemia Registry is a participant-driven resource that can empower and unite the FA community through shared knowledge. Registry participants can complete surveys about their own disease experiences. Through the registry we can track cancer cases in individuals with FA as well as treatments. It also helps to develop a communications registry within the Fanconi Anemia registry which can be used to notify patients of research studies and clinical trials. The overarching goal is to assist the FA community with the development of recommendations and standards of care and to be a resource for researchers interested in FA.
Open to all Fanconi anemia patients, their first-degree relatives defined as siblings (half or full), biologic parents, and children, and grandparents.
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.
This is a subgroup within the National Cancer Institute Cancer in Inherited Bone Marrow Failure Syndromes, listed above. It has been 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. This subgroup was created in order to determine the natural history of patients with FA associated with mutations in FANCD1/BRCA2.
Open to all individuals with Fanconi anemia. Enrollment required for tissue donation through The Rockefeller University.
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 reach out if you have been diagnosed with cancer or pre-cancer lesions.
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.
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.