Status:
COMPLETED
Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients
Lead Sponsor:
Berta Alemany
Collaborating Sponsors:
Institut de Recerca Biomèdica de Lleida
Universitat de Lleida
Conditions:
Friedreich Ataxia
Eligibility:
All Genders
16-65 years
Phase:
PHASE4
Brief 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...
Detailed Description
Friedreich's Ataxia (FA) is a recessive hereditary disease due to GAA (Guanine-Adenosine-Adenosine) triplet repeats in the FXN (Frataxin) gene. This gene codifies for the frataxin protein, the lack of...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
August 25 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
January 31 2023
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT04801303
Start Date
August 25 2021
End Date
January 31 2023
Last Update
October 23 2023
Active Locations (1)
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1
Hospital Santa Caterina/Parc Martí i Julià
Salt, Spain, 17190