This paper reports the effect of interferon gamma therapy in a single patient suffering from severe FRDA cardiomyopathy. At baseline, the female patient was 18 years old with a BMI of 21.9. She was diagnosed with severe hypertrophic cardiomyopathy with preserved systolic but attenuated diastolic function at the age of 9, and severe FRDA at the age of 10 with GAA expansion to appr. 700 repeats in both alleles. During the last couple of years, she had experienced several hospital admissions for heart failure with preserved ejection fraction. INFγ was administered as subcutaneous injections three times per week. Dosages were gradually increased from 10 μg up to 100 μg over two months; a further increment to 150 μg was instituted after 8 months of treatment. The patient suffered no adverse events, and some markers indicated a possible positive effect of treatment. The authors conclude thata randomised controlled trial should be undertaken in order to assess the effects and safety of INFγ treatment in FRDA cardiomyopathy.
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