Friedreich’s Ataxia related Diabetes: Epidemiology and management practices

•Friedreich’s Ataxia diabetes (FRDA-related DM) was reported in 8.7% of those with FRDA.•Risk factors for FRDA-related DM include age, severe disease, and cardiac disease.•FRDA-related DM is distinct from common forms of diabetes.•Currently, insulin and metformin are the most common treatments for FRDA-related DM.•Newer anti-diabetic agents have not been used widely in FRDA-related DM. Friedreich’s Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the prevalence of, risk factors for, and management practices of FRDA-related DM. FACOMS, a prospective, multi-site natural history study, includes 1,104 individuals. Extracted data included the presence of DM and other co-morbidities, genetic diagnosis, and markers of disease severity. We performed detailed medical record review and a survey for the subset of individuals with FRDA-related DM followed at one FACOMS site, Children’s Hospital of Philadelphia. FRDA-related DM was reported by 8.7% of individuals. Age, severe disease, and FRDA cardiac complications were positively associated with DM risk. FRDA-related DM was generally well-controlled, as reflected by HbA1c, though diabetic ketoacidosis did occur. Insulin is the mainstay of treatment (64–74% overall); in adults, metformin use was common and newer glucose-lowering agents were used rarely. Clinical factors identify individuals at increased risk for FRDA-related DM. Future studies should test strategies for FRDA-related DM screening and management, in particular the potential role for novel glucose-lowering therapies in preventing or delaying FRDA-related cardiac disease.