Overview

Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients

Status:
Active, not recruiting

Trial end date:
2022-09-01

Target enrollment:

Participant gender:

Summary

Friedreich's Ataxia (FA) is an autosomal recessive disease the mutation of which leads to a deficiency of a protein called frataxin, which is responsible for the symptoms of the disease. It is assumed that inducing an increase in the production of frataxin could reverse part of the disease's symptoms. Several treatments with drugs that raise frataxin levels have been tested, but they have either have not given the expected result or have induced intolerable side effects. The IRBLleida (Institut de Recerca Biomèdica de Lleida Fundació Dr. Pifarré) team has shown that calcitriol can increase the production of frataxin up to 2.5 to 3 times, a higher proportion than any of the drugs previously tested. For that reason, the next step in our research would be to check the effects of this drug (Calcitriol 0.25mcg/24h for a year) in patients with FA. On the other hand, calcitriol, the active form of vitamin D, is a drug with a very low rate of adverse effects that has been used for decades. Therefore, it is a drug with a very well established tolerability. The results of the present study, if positive, would lead to the organization of trials at a larger scale, and they would allow the use of an effective treatment for patients with FA.

Phase:

Phase 4

Details

Lead Sponsor:

Berta Alemany

Collaborators:

Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta
Institut de Recerca Biomèdica de Lleida
Universitat de Lleida

Treatments:

Calcitriol