A new study in the scientific journal Movement Disorders demonstrates that treatment with calcitriol, the active form of vitamin D, is safe in patients with Friedreich's ataxia. Although calcitriol does not improve the neurological function of the patients included in the trial, the results show a significant increase in frataxin levels, a key protein involved in this 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 enhances understanding of the metabolic pathways involved in this disease and opens the door to combined treatment with other potential therapies for Friedreich's ataxia,” says Dr. Berta Alemany, researcher at the Neurodegeneration and Neuroinflammation group at IDIBGI and coordinator of the Ataxia Unit at the Trueta and Santa Caterina hospitals. Dr. Alemany is the first and corresponding author of the study. The study was made possible with the collaboration of researchers from the Department of Basic Medical Sciences at the Biomedical Research Institute of Lleida (IRBLleida), who were responsible for measuring frataxin levels.
Calcitriol is known to increase frataxin levels in cell models of Friedreich's ataxia, based on previous studies conducted by the same Department of Medical Sciences at IRBLleida. Based on 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 assessments to evaluate their neurological function, quality of life, and frataxin levels. Of these, 15 patients completed the treatment over 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 improved neurological skills, the researchers believe the frataxin increase could be useful in future combined therapeutic strategies.
This work represents an important step in the research of this rare disease, which currently has no cure, and highlights the need for continued research to improve the quality of life for 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.
Photo credits: IAS Girona
