New drug confirmed as a potential therapeutic agent for a rare disease, Friedreich's Ataxia

A recent study has confirmed the benefits of the drug leriglitazone in treating Friedrich's Ataxia, a rare disease that affects 2-4 people in 100,000 and for which there is currently no effective cure. Research has confirmed that this drug improves the deficiencies of frataxin loss in cellular and animal models of Friedreich's Ataxia. This disease is caused by a deficiency in frataxin levels, which leads to mitochondrial dysfunction with neurological and cardiac involvement. The research has been published in the journal Neurobiology of Disease.

The research has been carried out in collaboration between the company Minoryx Therapeutics, the Oxidative stress biochemistry Stress Group of the University of Lleida (UdL) and the Institute of Biomedical Research of Lleida (IRBLleida), the Department of Physiology of the Faculty of Medicine and Dentistry of the University of Valencia - INCLIVA, the Centre for Biomedical Research Network on Rare Diseases (CIBERER) and the Department of Paediatrics and Neurology of The Children's Hospital of Philadelphia.

Friedreich's Ataxia is characterised by a progressive lack of coordination in movement. The first symptoms usually appear during pre-adolescence and become more severe with age. Usually, people suffering from the disease have to use a wheelchair before the age of 20.

"This result gives us hope that we will find drugs that, either individually or in combination, will improve the lives of patients. It is obvious that the improvement in mitochondrial functions is the main focus of this translational research and that, with this improvement, we can see that neurological symptoms can be improved", explained the head of the research group and professor at the UdL, Joaquim Ros. The next steps in the research are to see the results of the clinical trials being carried out by Minoryx Therapeutics and to continue providing molecular evidence of improvement in the cellular alterations that are produced by a lack of frataxin.

Leriglitazone, which is supplied orally, has an antioxidant, anti-inflammatory and neuroprotective effect. The drug is currently in advanced phase II clinical trials for this disease and in phase II/III for another neurodegenerative disease, X-adrenoleukodystrophy.

The study has been made possible thanks to the 2017 Challenge-Collaboration grant from the Ministry of Science and Innovation (RTC-2017-5867-1), the 2012 ENISA Young Entrepreneurs grant from the Ministry of Industry, Trade and Tourism, the 2017 Torres Quevedo grant from the Ministry of Science and Innovation (PTQ-17-09233) and the Wallonne Region grant (SPW-EER/DRDT/DPjR/DEMO/ML/Déf-7939).

Reference article:

Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina, Jordi Tamarit, Federico V. Pallardó, Pilar Gonzalez-Cabo, Joaquim Ros, David R. Lynch, Marc Martinell, Pilar Pizcueta, PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia, Neurobiology of Disease, 2020, 105162, ISSN 0969-9961, https://doi.org/10.1016/j.nbd.2020 .105162.

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