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: 0
• Participant gender: All

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
• Accepts Healthy Volunteers?: Accepts Healthy Volunteers

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

Criteria

Inclusion Criteria:

• Patients with Friedreich's Ataxia and confirmed genetic diagnosis with:

• Two pathological GAA triplet repeats in the gen FXN

• One pathological GAA triplet repeat and one point mutation in the gen FXN

• Patients between 16 and 65 years of age.

• To keep the walking ability, although an external aid is needed.

• Women with confirmed genetic diagnosis must use an effective contraceptive method during the trial.

Exclusion Criteria:

• Any neurological or other kind of disease that could interfere in the trial according to the investigator judgement.

• Severe visual loss.

• Severe auditory loss.

• Cognitive decline*.

• Dementia or affective-cognitive cerebellar syndrome.

• Serious psychiatric illness during the six previous months of the trial inclusion.

• Substance abuse during the six previous months of the trial inclusion.

• Severe drug allergy.

• Cardiac disease:

• Ejection fraction <40% [N: 50-70%]

• Heart failure > 2 from NYHA (New York Heart Association) criteria.

• Significant valvular heart disease.

• Symptomatic coronary artery disease.

• Cardiac arrhythmia with hemodynamic compromise (atrial fibrillation).

• Prolonged immobilisation

• Use of research drugs during the 30 previous days of the trial inclusion.

• Concomitant treatment with digoxin, thiazide diuretics, cholestyramine, corticoids, laxatives with magnesium, barbiturates and antiepileptic drugs. Use of Calcium or Vitamin D drugs during the 30 previous days of the trial inclusion.

• Legally or mentally incapacitated person.

• In women:

• Positive pregnancy test.

• Maternal breastfeeding.

• Blood test alteration:

• Hypercalcemia.

• Elevated creatinine.