A case study of a Freidreich’s ataxia (FA) patient with associated cardiomyopathy reported that an experimental treatment — interferon gamma (INFγ) therapy — could improve cardiac function.
The study, “Interferon gamma may improve cardiac function in Friedreich’s ataxia cardiomyopathy,” was recently published in International Journal of Cardiology.
INFγ is an important cell signaling molecule, known as a cytokine, that allows for the proper functioning of the immune system. There is a vast amount of research literature providing evidence that INFγ has anti-tumor and anti-infection activities.
Based on these evidences, the team decided to administer INFy in an experimental attempt to treat a FA patient with increased cardiac dysfunction.
The patient, an 18-year-old woman, had been diagnosed with severe FA and severe hypertrophic cardiomyopathy at the age of 10. Her clinical history included:
- A body mass index of 21.9 (considered normal weight)
- Several hospital admissions in previous years for heart failure with preserved ejection fraction
- Regular use of metoprolol, disopyramide, ivabradine, ibedenone, ranitidine, esomeprazole, and fluoxetine
INFγ therapy was administered due to her poor cardiac condition via subcutaneous injections three times per week. Dosages were gradually increased over eight months of treatment, and the patient’s medication regimen was not altered in any way other than in the use of INFγ therapy.
The effects of the experimental treatment were consistently monitored over the 50-week period that followed the first dose.
Treatment outcomes were assessed by echocardiography, markers of left ventricular hypertrophy looking at the average wall thickness, systolic function, and diastolic function.
Clinical outcomes at the 50-week assessment included:
- A decrease in troponin levels — clinical markers in the blood indicating damage to the heart muscles
- An improvement in markers of cardiac remodeling (MMP-9)
- Increased frataxin levels
- Improvement in patient’s self-assessed quality of life
- Ventricular wall thickness remained unaltered
Researchers indicated that, eight weeks after treatment initiation, the patient was hospitalized for one day due to chest pain, nausea, and general fatigue. She was hydrated, and her symptoms were reported to improve after rehydration therapy.
The authors emphasized that the results of one case report must be interpreted “with caution” and, until a larger clinical trial is conducted to confirm the results, the study’s findings cannot impact current standard treatment protocols.
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