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.
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Changes in the SARA scale (Scale for the Assessment and Rating of Ataxia) in FA patients after a one-year treatment with Calcitriol.
Timeframe: At the beginning, and at the 6th and 12th month (one year) after the beginning of the trial.
Changes in the 9-Hole Peg test in FA patients after a one-year treatment with Calcitriol.
Timeframe: At the beginning, and at the 6th and 12th month (one year) after the beginning of the trial.
Changes in the 8 meters walking test in FA patients after one year treatment with Calcitriol.
Timeframe: At the beginning, and at the 6th and 12th month (one year) after the beginning of the trial.
Changes in the PATA rate test in FA patients after one year treatment with Calcitriol.
Timeframe: At the beginning, and at the 6th and 12th month (one year) after the beginning of the trial.
Changes in Barthel index for Activities of Daily Living in FA patients after one year treatment with Calcitriol.
Timeframe: At the beginning, and at the 12th month (one year) after the beginning of the trial.
Changes in SF36 questionnaire in FA patients after one year treatment with Calcitriol.
Timeframe: At the beginning, and at the 12th month (one year) after the beginning of the trial.
Changes in Frataxin's levels during Calcitriol treatment..
Timeframe: At the beginning, and at the 15th day, 4th month, 8th month and 12th month after the beginning of the trial.