Research is the answer to one day making FA a treatable, manageable disease.
On this page you’ll find the latest updates on FARF-funded research and activities. Each quarter, we’ll update this list with our newly funded grants, projects and initiatives, events, and other research milestones or opportunities.
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Last updated: April 19, 2023
Clinical trial to investigate the safety and efficacy of Afatinib when administered as therapy in FA patients
Investigators: Jordi Surrallés, PhD; Ramon Garcia Escudero, PhD
Institution: Sant Pau Hospital Research Institute, Spain; Research Institute of the Hospital 12 de Octubre, Spain
Amount awarded: $324,733
Individuals with FA have a higher risk of developing head and neck squamous cell carcinoma (HSNCC) at young ages. Long-term survival rates remain low because often these patients cannot tolerate conventional chemotherapy and radiation treatments due to issues related to toxicity. This study is the first clinical trial focused on a therapy for FA-related HNSCC. It will investigate the efficacy and safety of the drug, Afatinib, when administered to people with FA who are diagnosed with unresectable and/or advanced squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx, or larynx.
Gene Therapy and Gene Editing
Development of in utero therapies for Fanconi anemia
Investigators: Agnieszka Czechowicz, MD, PhD
Institution: Stanford University
Amount awarded: $250,000
Correcting Fanconi anemia (FA) mutations in all cells of the body may prevent issues such as bone marrow failure and cancer in people with FA. Since mutations in FA genes start during the gestational process, the ideal time to correct genes may be in utero. The goal of this study is to use laboratory-based experiments to determine whether gene editing in utero (during gestation) can correct FA gene variants in various tissues of the body.
Correction of Fanconi Anemia Mutations using Digital Genome Engineering
Investigators: Branden Moriarity, PhD; Beau Webber, PhD; John Wagner, MD
Institution: University of Minnesota
Funded in 2020
Transplanting healthy stem cells from related siblings or matched donors is the current standard of care for people with Fanconi anemia (FA) who are diagnosed with bone marrow failure. However, this treatment carries significant risks caused by the toxic preconditioning regimen and immune-mismatch related complications. The goals of this study were to optimize and apply a paradigm shifting new technology, termed base editing, to correct mutated FA genes in cells. Results from this pre-clinical study showed that base editing can proficiently correct the most common FA mutation, which is prevalent in those of Spanish Romani ancestry. In future studies, the team will apply base editing to correct other mutations and hopes to translate this approach to new clinical trials over the next few years.
Severe spermatogenic failure as a sentinel for early diagnosis of late-onset FA
Investigators: Csilla Krausz, MD, PhD
Institution: Fundacio Puigvert, Spain
Funded in 2020
Manifestations of Fanconi anemia (FA) typically appear during childhood. However, in a subset of patients, diagnosis is delayed until adulthood because individuals have no symptoms or present with subtle findings that may be overlooked. It has previously been described that infertile males with azoospermia (the absence of sperm from ejaculate) can have a high frequency of late-onset FA due to FANCA mutations. Mouse models suggest that apart from FANCA, other members of the FA pathway also play a role in the production of sperm.
The goal of this study was to diagnose late-onset FA using genomic analysis in a highly select group of infertile men with severe spermatogenic failure (SSF) before the appearance of severe clinical complications. Their team performed genetic analysis on a select group of 142 infertile patients showing mild hematological alterations and 111 fertile controls. Their results showed a significantly higher frequency of pathogenic and predicted pathogenic FA gene variants in infertile men than in controls. This observation suggests a link between azoospermia and FA gene variants and published epidemiological data showing higher comorbidity rates, including cancer, in azoospermic men with respect to the general population.