Study shows that active vitamin D treatment is safe in patients with Friedreich's ataxia

A new study in the scientific journal Movement Disorders shows that a treatment with calcitriol, the active form of vitamin D, is safe in patients with Friedreich's ataxia. Although calcitriol does not improve neurological function in the patients included in the trial, the results show a significant increase in levels of frataxin, a key protein involved in the disease.

Friedreich's ataxia is a rare neurodegenerative disease that affects motor coordination, speech and other bodily functions. It is caused by a deficiency in the production of frataxin, a protein essential for cell function.

'The increase in frataxin in treated patients allows us to increase our knowledge of the metabolic pathways that influence this disease and to be able to consider combined treatment with other potential therapies for Friedreich's ataxia,' says Dr. Berta Alemany, a researcher in the Neurodegeneration and Neuroinflammation research group at IDIBGI and coordinator of the Ataxia Unit at Trueta and Santa Caterina Hospitals. Dr. Alemán is first author and corresponding author of the study. The study was carried out in collaboration with researchers from the Biochemistry of Oxidative Stress group at the University of Lleida and the Institute for Research in Biomedicine of Lleida (IRBLleida), who were responsible for measuring frataxin levels.

alcitriol is known to increase frataxin levels in cellular models of Friedreich's ataxia, thanks to studies previously conducted by the same IRBLleida group. With this premise, the study recruited 20 patients diagnosed with Friedreich's ataxia, who received a daily dose of 0.25 mcg of calcitriol and underwent periodic tests to assess their neurological function, quality of life and frataxin levels. Of these, 15 patients completed treatment for one year.

The results show that, after 12 months of treatment, patients' frataxin levels increased from 5.5 to 7.0 pg/μg of total protein. Although this increase was not accompanied by an improvement in neurological abilities, the researchers believe that the increase in frataxin obtained could be useful in future combined therapeutic strategies.

This work represents an important step in the research of this minority disease, which currently has no cure, and underlines the need for further research to improve the quality of life of patients.

Reference article: Alemany-Perna B, Tamarit J, Cabiscol E, Delaspre F, Miguela A, Huertas-Pons JM, Quiroga-Varela A, Merchan Ruiz M, López Domínguez D, Ramió I Torrentà L, Genís D, Ros J. Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients. Mov Disord. 2024 Jul;39(7):1099-1108. doi: 10.1002/mds.29808. Epub 2024 May 2. PMID: 38696306.