Gene therapy to treat Friedreich Ataxia A gene therapy strategy based on Adeno-Associated Virus (AVV) to treat Friedreich Ataxia

  • Edition: 2016
  • Research center: Fundació Institut d’Investigació en Ciències de la salut Germans Trias i Pujol
  • Scientific Area: Pharmacology
  • Business area: Therapeutic
  • Status: In development
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Friedreich Ataxia (FRDA) is a devastating rare disease with early onset. FRDA is caused by a mutation in the frataxin gene, causing progressive neurodegeneration, cardiac atrophy and movement problems. The estimated prevalence is 2-4 per 100,000 people, with no treatment or therapeutic approach. Gene therapy vectors based on adeno-associated viruses (AAV) are becoming increasingly popular for their good safety profile, being used in more than 150 clinical trials to treat diverse inherited conditions.


  • To develop the first-in-class therapy for FRDA by stopping, preventing or slowing the progression of the neurological symptoms of the disease by restoring the expression of the defective gene in patients with FRDA.

Problem to Solve

Friedreich Ataxia (FRDA) is a devastating rare disease with no available effective therapeutic approach to date.


Gene therapy based on AAV to restore frataxin levels in vivo, thus reversing, halting and preventing the symptoms associated with FRDA. 

Level of Innovation

The approach proposed would be a first-in-class therapy to treat the neurological symptoms in FRDA, as no alternative exists at the present time. This gene therapy based on AAV has been pre-clinically tested for FRDA, and  optimally targets the CNS.


Ph.D. Director of the Neurogenetics Unit. Head of the research group

Antoni Matilla Dueñas

Instituto de Investigación Germans Trias i Pujol

Ph.D. Director of the Vector Production Unit

Miguel Chillón

Universitat Autònoma de Barcelona

Ph.D. Co-Director of the Functional Biology and Experimental Therapeutics Laboratory

Ivelisse Sánchez

Instituto de Investigación Germans Trias i Pujol

M.D., Clinical Advisor

Jaume Coll

Ph.D., IGTP Knowledge and Technology Transfer Manager

Núria Martí


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