Ignite Creation Date:
2024-05-06 @ 3:54 PM
Last Modification Date:
2024-10-26 @ 1:59 PM
Study NCT ID:
NCT04801303
Status:
COMPLETED
Last Update Posted:
2023-10-23
First Post:
2021-03-01
Brief Title:
Evaluation of the Effects of Calcitriols in the Neurological Symptoms of Friedreichs Ataxia Patients
Sponsor:
Berta Alemany
Organization:
Institut dInvestigació Biomèdica de Girona Dr Josep Trueta
Study Overview
Official Title:
Pilot Trial About the Effects of Calcitriols Treatment in the Neurological Function and Frataxins Level in Friedreichs Ataxia Patients
Status:
COMPLETED
Status Verified Date:
2023-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CalcitriolFA
Brief Summary:
Friedreichs 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 diseases 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 25 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 025mcg24h 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
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 25 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 025mcg24h 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
Detailed Description:
Friedreichs 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 which produces the neurological and cardiac symptoms
The exact mechanisms why the lack of frataxin produces the disease arent 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 025mcg24h 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 025mcg of Calcitriol every 24h in patients with FA
2 To measure de change in the Frataxins 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 frataxins 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 dont demonstrate a statistically significant effect the treatment will be interrupted in all patients
The exact mechanisms why the lack of frataxin produces the disease arent 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 025mcg24h 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 025mcg of Calcitriol every 24h in patients with FA
2 To measure de change in the Frataxins 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 frataxins 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 dont demonstrate a statistically significant effect the treatment will be interrupted in all patients
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2020-001092-32 | EUDRACT_NUMBER | None | None |