My Fabry Disease

​Research and Trials

​The good news is that Fabry disease has been the subject of ongoing research and clinical trials aimed at improving diagnosis, treatment, and quality of life for affected individuals. Here's an overview of recent developments:

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Enzyme Replacement Therapy (ERT) has been a primary focus of research and treatment for Fabry disease. Clinical trials have explored the efficacy of different ERT formulations, including agalsidase alfa and agalsidase beta. These treatments aim to replace the deficient enzyme, alpha-galactosidase A, which is responsible for breaking down certain lipids in the body. Long-term studies are ongoing to assess the impact of ERT on disease progression and life expectancy. Current ERT treatments include: Fabrazyme, Replagal and Elfabrio.

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Gene therapy is possibly a promising area of research for Fabry disease. Clinical trials are investigating the potential of gene therapy to provide a more permanent solution by introducing functional copies of the GLA gene, which is mutated in Fabry disease. Early-stage trials have shown encouraging results, with some patients showing increased enzyme activity after treatment.

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Chaperone therapy is another avenue of research. This approach uses small molecules to stabilize the mutated enzyme, potentially improving its function. The drug Migalastat has been approved for certain patients with amenable mutations, and research continues to explore its long-term effects and potential for use in combination therapies.

 

Biomarker research is ongoing to improve diagnosis and monitoring of Fabry disease. Studies are looking at various biomarkers, including Lyso-Gb3, to better understand disease progression and treatment response. This research could lead to more personalized treatment approaches and earlier intervention.

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Clinical trials are also exploring novel treatment approaches, such as substrate reduction therapy, which aims to decrease the accumulation of harmful substances in the body. Additionally, research is ongoing into the neurological aspects of Fabry disease, including potential treatments for neuropathic pain and stroke prevention.

 

Fabry research is global, and the co-operation between experts across the world is truly inspiring. A summary of some of the current research can be found at ClinicalTrials.gov .