A clinical trial with calcitriol has begun to validate its therapeutic potential for treating Friedreich's Ataxia

A clinical trial could validate the use of calcitriol, the active form of vitamin D, to treat Friedreich's Ataxia, as proposed by the Biochemistry of Oxidative Stress Group at the Biomedical Research Institute of Lleida (IRBLleida) and the University of Lleida (UdL). Their research is the basis of this trial to be carried out by the Ataxia Unit of the Josep Trueta Hospital in Girona and the Santa Caterina Hospital of the Parc Hospitalari Martí i Julià de Salt in conjunction with the Institute for Research in Biomedicine of Girona (IDIBGI).

The Biochemistry of Oxidative Stress Group has validated the use of calcitriol to increase frataxin production, in a previous study published in the Biochemical Journal in 2021. Friedreich's ataxia is a rare neurodegenerative disease caused by low, but not zero levels of frataxin, a mitochondrial protein. The disease is characterised by a destruction of certain nerve cells in the spinal cord, the cerebellum and the nerves that control muscle movements in the arms and legs. It usually appears between the ages of five and 15, and is often accompanied by heart disease and diabetes.

This trial has come to light thanks to a joint initiative of the Biochemistry of Oxidative Stress Group of the IRBLleida and the UdL, the Neurodegeneration and Neuroinflammation Research Group of the Institute for Biomedical Research of Girona (IDIBGI), the Hospital Santa Caterina of the Parc Hospitalari Martí i Julià de Salt and the Hospital Universitari Dr. Josep Trueta of Girona.

The trial will take place, starting in September to ensure that all participants are vaccinated against COVID-19, at the Santa Caterina Hospital in Salt. It will last 12 months during which the participants will follow the treatment with calcitriol and will visit the centre for follow-ups and controls on a total of 6 occasions. Participants will have to be diagnosed with the disease, be between 16 and 65 years old and be able to walk. The clinical trial, which has been financed with a "Research Grant from the Spanish Federation of Ataxias", has begun to recruit patients who wish to participate in this trial, in which people from all over Spain and also from Germany, Ireland and Belgium have already shown interest.

The Biochemical Research Group on Oxidative Stress at IRBLleida, led by UdL professors Joaquim Ros and Jordi Tamarit, will monitor the biochemical parameters of patients undergoing treatment. This group has extensive experience in this field of research and in 2017 received international funding from the Rare Genomics Institute for the creation of a new mouse model of Friedreich's ataxia, using an innovative strategy based on the introduction of a point mutation in the frataxin gene that causes the instability of this protein.

At the Girona Trueta and Santa Caterina hospitals, the neurologist Berta Alemany and the neurologist and current IDIBGI researcher David Genís will carry out the clinical follow-up of the participants in the clinical trial to assess whether there is any change in the neurological symptoms of the disease and to confirm the safety of the treatment. The Neurodegeneració and Neuroinflammation Research Group will provide the logistics of extracting analytical tests, performing electrocardiograms, processing the samples to be sent to Lleida and supporting the logistics of the clinical trial.

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Text: Communication and Press IRBLleida