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. Scroll to the bottom of this page to learn more.
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.
Open to Fanconi anemia patients of all subtypes, ages 2+. Eligibility includes having developed cytopenias (reduced blood cell counts) and not having 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 individuals ages one month to 60 years old who are deemed eligible for allogeneic Hematopoietic Stem Cell Transplant (HSCT) per institutional guidelines. See study information for additional inclusion and exclusion criteria.
In this study, the participant will undergo a stem cell transplant using donor cells that have been manipulated through an investigational device (CliniMACS® TCRαβ-Biotin System and CliniMACS® CD19). The purpose of the study is to improve the safety and efficacy of allogeneic HLA-partially matched related or unrelated donor HSCT when no matched donors are available. Participants will be followed for outcomes for two years.
Eligibility includes people with Fanconi anemia, ages 2 years or older, weighing greater than 10kg. This study is for individuals 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.
Stanford University, Stanford, CA | Active, currently recruiting participants
Open to individuals who are either scheduled to receive or have completed a Hematopoietic Stem Cell Transplant (HSCT). Those with HSCT completed at another institution other than Lucile Packard Children’s Hospital (LPCH) are eligible although follow-up long-term care must be transferred to LPCH. Participants will be seen thorough the late-effects clinic in the Pediatric HSCT Clinic. Participants who have relapsed from a malignant diagnosis post HSCT and are not being worked-up for a new HSCT are not eligible.
The goal of the study is to establish systematic follow-up care for HSCT recipients by collecting data and tissue samples and creating a comprehensive database to demonstrate survivor’s clinical status through their life span.
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 medication by mouth, 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.
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.
FARF may provide financial assistance in the form of a travel scholarship to individuals/families interested in participating in a clinical trial if cost presents an obstacle. Click the link below to learn more and to apply.