Ataxia-oculomotor Apraxia 1 Clinical Trial
Official title:
Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10
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.
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.
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