What is Friedreich's ataxia?

Friedreich's ataxia is an inherited, neuronal degenerative disease that is caused by an abnormality in a gene called FXN, which is located on chromosome 9. This leads to a decreasing of a protein called frataxin that causes progressive deterioration of the cerebellum and dorsal spine ganglia on those who suffer the disease.


This lack of frataxin causes a progressive loss of balance, loss of sensitivity, uncoordinated movements, scoliosis, dysphagia, dysarthria, nystagmus, and often diabetes and severe heart problems.


Those affected by this disease, in a more or less short term, will be wheelchair bound and gradually lose their personal autonomy.


FA is an autosomal recessive genetic disorder, which means that the affected inherit a copy of the defective gene from both parents, who are asymptomatic carriers, to inherit the disease. It is estimated that approximately 1 out of every 70 people are carriers of the defective gene. Given that symptoms don’t show up after several years from birth, it is common that there may be several affected children in the same family.


Although belonging to the group of rare diseases, Friedreich's ataxia is relatively common. The estimated prevalence is 4 / 100,000 among the Indo-European population, being slightly higher in Spain, that has a prevalence of 4.7 cases per 100,000 people (Instituto de Salud Carlos III. Neuroepidemiology 2013; 41:13-19).


Why a gene therapy for FA?

 

Gene therapy is a very suitable alternative for achieving a cure to genetic diseases. FA concentrates altogether all the features for which this type of therapeutic intervention is appropriate:

  • It’s a monogenic disease, that is, it only affects to a single gene, therefore correcting a defective gene or adding a proper one the problem may be solved.
  • The FXN gene mutation acts by preventing the translation of the frataxin protein but does not produce "toxic" proteins, therefore, increasing the frataxin translation would be sufficient to solve the matter and would not require blocking any gene.

 

Currently, there are different gene therapy approaches for most of the genetic diseases whose causative gene is known, which are at various stages of development. 1393 gene therapy clinical trials have already been performed for a wide variety of diseases (The Journal of Gene Medicine, 2013).


In Europe, the marketing of the first gene therapy for a human genetic disease is already authorized and approved. This precedent may hugely make lighter the difficult and time-consuming red tape in the approval of new advanced therapies.


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