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Multicenter Study
. 2022 Apr:186:109828.
doi: 10.1016/j.diabres.2022.109828. Epub 2022 Mar 14.

Friedreich's Ataxia related Diabetes: Epidemiology and management practices

Jaclyn Tamaroff  1 , Anna DeDio  2 , Kristin Wade  2 , McKenzie Wells  3 , Courtney Park  3 , Karla Leavens  4 , Christian Rummey  5 , Andrea Kelly  4 , David R Lynch  6 , Shana E McCormack  4
Affiliations
Multicenter Study

Friedreich's Ataxia related Diabetes: Epidemiology and management practices

Jaclyn Tamaroff et al. Diabetes Res Clin Pract. 2022 Apr.

Abstract

Aims: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: Friedreich’s Ataxia; Mitochondrial diabetes.

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Conflict of interest statement

Declarations of interest: None

Figures

Figure 1:
Figure 1:
Participants included in each cohort.
Figure 2:
Figure 2:. Medication use in FRDA-related DM
Medication use in the CHOP limited EMR review. Other medications in the CHOP limited EMR review cohort included bile acid sequestrants and amylin analogues. The natural history cohort had a similar percent (74%, 64/86) of individuals who reported having used insulin. The survey data also demonstrated a similar pattern to the EMR review, with 7/11 on insulin, 7/11 currently or previously on metformin, 2/11 on GLP-1R agonists, and 1/11 on metformin/pioglitazone.
See this image and copyright information in PMC

References

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