Ignite Creation Date:
2025-12-25 @ 3:20 AM
Ignite Modification Date:
2026-03-03 @ 4:15 AM
Study NCT ID:
NCT02333305
Status:
COMPLETED
Last Update Posted:
2017-11-06
First Post:
2014-09-29
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Study Overview
Official Title:
Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10
Status:
COMPLETED
Status Verified Date:
2017-10
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:
AOA1
Brief Summary:
We propose a study on Ataxia with oculomotor apraxia type 1 (AOA1) in which Coenzyme Q10 (CoQ10) deficit has been observed. Main objectives of the study are :
* To monitor evolution of albumin in patients affected with AOA1 while supplemented with CoQ10 ;
* To measure with clinical scales and biological markers efficacy of supplementation on disease evolution.
AOA1 is characterised by Hypoalbuminemia. Disease duration is negatively correlated with albumin level. This study aims to understand mechanisms of the disease and our hypothesis is that correction or stabilization of albumin level with CoQ10 supplementation could impact disease evolution. The study is planned from 1 to 2 years supplementation. The CoQ10 is classified as a food supplement and has already been tested in other neurological conditions.
* To monitor evolution of albumin in patients affected with AOA1 while supplemented with CoQ10 ;
* To measure with clinical scales and biological markers efficacy of supplementation on disease evolution.
AOA1 is characterised by Hypoalbuminemia. Disease duration is negatively correlated with albumin level. This study aims to understand mechanisms of the disease and our hypothesis is that correction or stabilization of albumin level with CoQ10 supplementation could impact disease evolution. The study is planned from 1 to 2 years supplementation. The CoQ10 is classified as a food supplement and has already been tested in other neurological conditions.
Detailed Description:
Ataxia with ocular apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia. Patients' phenotype associates early onset cerebellar ataxia, oculomotor apraxia, neuropathy and often intellectual disability, hypoalbuminaemia and hypercholesterolemia.
APTX gene mutations responsible for AOA1 disease were identified in a family previously reported with ataxia and Coenzyme Q10 deficiency. Therefore we measured muscle Coenzyme Q10 in six patients AOA1 and found decreased levels in five. Hypercholesterolaemia and low albumin levels represent hallmarks of the disease.
We thus propose therapeutic trial with Coenzyme Q10 in AOA1 patients, by using albumin evolution as primary endpoint.
Moreover several secondary endpoints will be performed:
* clinical examination (SARA scale)
* quantitative assessments of the ataxia (with the calculation of the Composite Cerebellar Functional Severity CCFS)
* biological criteria (prealbumin, cholesterol, alphafoetoprotein, blood count, hepatic checkup)
* oculographic examination.
The study is a multicentric randomised placebo controlled trial with two-year follow-up:
* during the first year, one group will be supplemented with Coenzyme Q10 while the other group will receive a placebo;
* during the second year, all patients will be supplemented with Coenzyme Q10 in order to assess long term safety and tolerance of the treatment.
APTX gene mutations responsible for AOA1 disease were identified in a family previously reported with ataxia and Coenzyme Q10 deficiency. Therefore we measured muscle Coenzyme Q10 in six patients AOA1 and found decreased levels in five. Hypercholesterolaemia and low albumin levels represent hallmarks of the disease.
We thus propose therapeutic trial with Coenzyme Q10 in AOA1 patients, by using albumin evolution as primary endpoint.
Moreover several secondary endpoints will be performed:
* clinical examination (SARA scale)
* quantitative assessments of the ataxia (with the calculation of the Composite Cerebellar Functional Severity CCFS)
* biological criteria (prealbumin, cholesterol, alphafoetoprotein, blood count, hepatic checkup)
* oculographic examination.
The study is a multicentric randomised placebo controlled trial with two-year follow-up:
* during the first year, one group will be supplemented with Coenzyme Q10 while the other group will receive a placebo;
* during the second year, all patients will be supplemented with Coenzyme Q10 in order to assess long term safety and tolerance of the treatment.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: