New drugs for rare disease

Friedreich’s ataxia is an inherited, progressive neuromuscular disease caused by partial inactivation of the frataxin gene.

Scientists at Imperial College initially began with laboratory experiments looking for ways in which gene expression could be altered, not by correcting the faulty gene but by targeting other molecules that have the ability to alter the activity of genes. Their research, over a 10 year period, discovered that changing the expression of an enzyme, histone deacetlylase activity with high doses of nicotinamide (Vitamin B3), could increase gene expression including that of frataxin.

Collaborating with clinicians at Imperial College Healthcare NHS Trust, this then led to a first clinical study to see whether nicotinamide, which reduces histone deacetylase activity, could reverse the reduced frataxin gene levels seen in Friedreich’s ataxia patients. The study was successful and the effect of nicotinamide treatment on patients’ symptoms is now being investigated.

This AHSC research programme not only provided hope of a potential future treatment for Friedrich’s ataxia but importantly also opened up the possibility that this type of treatment might be effective in other inherited genetic disorders.