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

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.

Conditions

• Friedreich Ataxia

Interventions

DRUG

Calcitriol

Administration of Calcitrol 0.25mcg/24h for a year in Friedreich's Ataxia patients (n=20)

OTHER

Blood analysis for frataxin's level measurement

1. Five blood analysis in Friedreich's Ataxia patients: before starting the treatment, and after fifteen days, 4 months, 8 months and 12 months of the treatment. 2. To validate the Frataxin's levels measurement, a blood analysis will also be done in two kind of controls for every Friedreich's Ataxia patient, only once at the beginning of the trial. The control groups will be composed by: * Heterozygous Ataxia's Friedreich controls (a close relative of the patient, either a heterozygous sibling or one of the parents) * Age- and gender-matched controls (supposedly non-heterozygous).

DIAGNOSTIC_TEST

Blood analysis for hypercalcemia's control

Five blood analysis in Friedreich's Ataxia patients for monitoring the hypercalcemia risk (with measurement of Calcium, D Vitamin, renal function, albumin, protein, phosphate, sodium and potassium) Before starting the treatment, and after fifteen days, at 4 months, 8 months and 12 months of the treatment.

Sponsors & Collaborators

• Institut de Recerca Biomèdica de Lleida

  collaborator OTHER

• Universitat de Lleida

  collaborator OTHER

• Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta

  collaborator OTHER

• Berta Alemany

  lead OTHER

Principal Investigators

• Berta Alemany Perna · Hospital Universitari Josep Trueta/Hospital Santa Caterina, Girona/Salt, Spain

Study Design

Allocation

NA

Purpose

TREATMENT

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

16 Years

Max Age

65 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-08-25

Primary Completion

2022-09-30

Completion

2023-01-31

Countries

• Spain

Study Locations