Aneal Khan, MD, President of MAGIC Clinic (Metabolics and Genetics in Canada), discusses five year end-of-study results from the FACTs trial in patients in Fabry disease.
Fabry disease is a rare lysosomal storage disease characterized by a deficiency of the enzyme alpha-galactosidase (alpha-GAL), that helps break down GL3. Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys. Fabry disease is caused by genetic changes in the GLA gene.
The goal of the Canadian FACTs clinical trial was to correct enzyme deficiency in patients with Fabry disease by transferring cDNA for alpha-GAL A into CD34+ hematopoietic stem cells. In total, five male patients with Fabry disease were treated
Following infusion with a recombinant lentivirus, circulating alpha-GAL activity was observed at day 6-8 and remained durable for 5 or greater years. Additionally, LV marking of peripheral blood cells has remained durable and polyclonal. Plasma lyso-Gb3 levels were significantly lower in four patients. All five patients were eligible to come off biweekly enzyme replacement therapy, with three doing so.
No sustained elevation of anti-alpha-GAL A antibodies were observed. Patient weight was stable in four patients and blood pressure and kidney symptoms were normal and stabilized in all patients. Overall, the therapy proved to be tolerable and durable.
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To learn more about Fabry disease and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
