Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients
NCT ID: NCT04801303
Last Updated: 2023-10-23
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
PHASE4
20 participants
INTERVENTIONAL
2021-08-25
2023-01-31
Brief Summary
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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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Detailed Description
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The exact mechanisms why the lack of frataxin produces the disease aren't well understood, but it is known that frataxin is located in the mitochondria. Calcitriol synthesis, a mitochondrial process, could be impaired in FA due the reduction of CYP27B1 (Cytochrome P450, family 27, subfamily B, member 1) and Fdx1.
Because of some studies have shown that Calcitriol (the active form of D Vitamin) could raise the frataxin levels, it could have a beneficial effect in patients with FA.
Description of the trial: to assess the effect of Calcitriol 0.25mcg/24h for a year in the neurological function of FA patients.
Main objective of the trial: to evaluate the effects of Calcitriol in the neurological symptoms of patients with FA.
The second objectives of the trial are:
1. To evaluate the safety and the risk of hypercalcemia with the treatment with low dosis of Calcitriol (0.25mcg of Calcitriol every 24h) in patients with FA.
2. To measure de change in the Frataxin's levels during the treatment with Calcitriol.
3. To evaluate the effects of Calcitriol in the daily life activities and the life quality of the patients with FA.
Sample size: The number of participants needed to compleat the trial is 20. Duration: The duration of the trial is one year
Procedure:
* Before taking part in the study, it will be ensured that participants fulfill all the inclusion criteria with a detailed questionnaire.
* During the clinical trial the following test will be done: 4 electrocardiogram, 5 blood analysis to control de risk of hypercalcemia and to measure the frataxin's levels, and 3 full neurological examinations.
Post trial treatment details:
The patients who wish to continue with the treatment will be allowed to do so, at least until the results of the comparison of the basal neurological evaluation with the second and the final neurological evaluation are obtained.
If the results are positive, the treatment will be continued with regular blood tests controls.
If the results don't demonstrate a statistically significant effect, the treatment will be interrupted in all patients.
Conditions
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Study Design
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NA
SINGLE_GROUP
TREATMENT
NONE
Study Groups
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Friedreich's Ataxia patients
Friedreich's Ataxia patients that will receive treatment with Calcitrol 0.25mcg/24h for a year.
During the clinical trial:
* The effects of Calcitriol in the neurological symptoms of Friedreich's Ataxia patients will be evaluated before starting the treatment and after a year. The following scales will be used: SARA scale, 9-Hole Peg test, 8 meters walking test, PATA velocity test and Quality of life test with the SF36 questionnaire.
* The changes in the Frataxin's levels during the treatment with Calcitriol will be measured: before starting the treatment, and after fifteen days, 4 months, 8 months and 12 months of the treatment.
Calcitriol
Administration of Calcitrol 0.25mcg/24h for a year in Friedreich's Ataxia patients (n=20)
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).
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.
Interventions
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Calcitriol
Administration of Calcitrol 0.25mcg/24h for a year in Friedreich's Ataxia patients (n=20)
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).
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.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* 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
* 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.
16 Years
65 Years
ALL
Yes
Sponsors
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Institut de Recerca Biomèdica de Lleida
OTHER
Universitat de Lleida
OTHER
Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta
OTHER
Berta Alemany
OTHER
Responsible Party
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Berta Alemany
Principal Investigator
Principal Investigators
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Berta Alemany Perna
Role: PRINCIPAL_INVESTIGATOR
Hospital Universitari Josep Trueta/Hospital Santa Caterina, Girona/Salt, Spain
Locations
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Hospital Santa Caterina/Parc Martí i Julià
Salt, , Spain
Countries
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References
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Britti E, Delaspre F, Sanz-Alcazar A, Medina-Carbonero M, Llovera M, Purroy R, Mincheva-Tasheva S, Tamarit J, Ros J. Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia. Biochem J. 2021 Jan 15;478(1):1-20. doi: 10.1042/BCJ20200331.
Provided Documents
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Document Type: Study Protocol and Statistical Analysis Plan
Document Type: Informed Consent Form: Healthy control informed consent form
Document Type: Informed Consent Form: Healthy control informed consent form
Other Identifiers
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2020-001092-32
Identifier Type: EUDRACT_NUMBER
Identifier Source: secondary_id
IdIBGI
Identifier Type: -
Identifier Source: org_study_id
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