About the Fanconi Anemia Patient Registry
The primary aim of the Fanconi Anemia Patient Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of the disease and its course and pace over time. Other registry objectives include the following:
The FA Registry collects data on the following topics:
The FA Registry follows strict government guidelines to assure patient information is protected. The registry platform is served over HTTPS, providing encryption of traffic to prevent eavesdropping and man-in-the-middle attacks. Communication between the registry platform application server and the database are also encrypted.
Fanconi anemia (FA) is a complex genetic disorder characterized by physical abnormalities, bone marrow failure, and an increased risk for malignancy. Physical abnormalities, present in approximately 75% of all patients, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies.
Fanconi anemia is the most common genetic cause of aplastic anemia and one of the most common genetic causes of hematologic malignancy. The ratio of males to females is 1.2:1. Carrier frequency in North Americans is reported as 1:181. The age of onset is highly variable. An analysis of 754 individuals with pathogenic variants in FANCA, FANCC, and FANCG identified an average age of onset of 7.6 years (Dietz et.al. 2017). Rarely, bone marrow failure can present in infants and small children (Shimamura et.al 2010). The risk of developing any hematologic abnormality is 90% by age 40 years (Kutler et. al. 2003).
The Fanconi Anemia Registry is an online registry for patients with Fanconi Anemia. It will be hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them and as such is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. The registry will collect information from participants, (or their authorized respondents, heretofore referred to collectively as “participants”), who are affected by Fanconi Anemia.
How is Fanconi Anemia diagnosed?
The diagnosis of FA is established with demonstration of increased chromosome breakage and cytogenetic testing of lymphocytes using diepoxybutane (DEB) and mitomycin C (MMC).
Who is affected by Fanconi Anemia?
Individuals born with a defect in any one of the 19 associated genes, or with the pathogenic variant RAD51 will be diagnosed to have Fanconi Anemia. Patients will manifest with disease abnormalities in early childhood, although patients can often be diagnosed in adulthood, consequent to development of cancer, often of the Head and Neck region or the genital areas.
How is Fanconi Anemia treated/managed?
Hematopoietic stem cell transplantation (HSCT) is the only definitive treatment for the hematologic manifestations of FA. Patients are typically treated when there is a continuing decrease of blood cells, especially platelets. In other cases, use of oral androgens improves red blood cell and platelet counts. Administration of G-CSF improves the neutrophil count in some patients and more recently studies using gene therapy have commenced but data on its efficacy are limited. Solid tumors are treated through surgical removal with possible localized radiation.
Who can join the study?
This study is open to anyone who are diagnosed with Fanconi Anemia in the Zellweger spectrum and the related single enzyme disorders.
Is there a cost to participate?
There is no cost to the patient to join this study. The Fanconi Anemia Research Fund absorbs the cost of the registry for its members.
What is a Patient Registry?
A patient registry is a collection of standardized information about a group of patients who share a condition and is used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.
What is a Natural History Study?
A natural history study is a study designed to track the course of a disease over time and includes people who have a specific medical condition or disease and those who are at risk of developing such. This method of research explores the disease in a comprehensive way and identifies demographic, genetic, environmental, and other variables that correlate with the disease and its outcomes. Natural history studies have many potential uses such as patient care best practice developments and clinical trial recruitment.