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Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 (AOA1)

Primary Purpose

Ataxia-oculomotor Apraxia 1

Status

Completed

Phase

Phase 3

Locations

France

Study Type

Interventional

Intervention

CoQ10

Sanomit Placebo

About this trial

This is an interventional treatment trial for Ataxia-oculomotor Apraxia 1 focused on measuring Ataxia with Oculomotor Apraxia type 1, CoQ10, hypoalbuminemia

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion criteria :

1. Diagnosis of ataxia with oculomotor apraxia type I (AOA1) confirmed by genetic molecular analysis
2. Age ≥ 18 years
3. Hypoalbuminemia
4. Efficient contraception for women of childbearing potential (with pregnancy test during each visit)
5. Signature of the written informed consent form
6. Presence of a support person (for patient with cognitive disorders)

Exclusion criteria :

1. Hypersensitivity to one of the excipients (glycerin, ethanol, lecithin)
2. Absence of hypoalbuminemia
3. During the 2 months before inclusion :
- Use of CoQ10
- Treatment with antioxidants (vitamin C) and statins
- Use of drugs affecting mitochondrial activity
- Anti-cholesterol, thyroid hormones, anti-arrhythmic compounds, warfarin, metformin or clozapine
4. Treatment with vitamin E, calcium, magnesium and/or other vitamins with a concentration superior to 149 UI during more than 3 months before inclusion
5. Use of drugs interfering with catacholamine metabolism (reserpine, amphetamine, or inhibitors of the monoamine oxidase A, methylphenidate, cinnarizine) during the month before inclusion
6. Non balanced treatment with anxiolytics, hypnotics, tranquillizers and/or antidepressants during the month before inclusion
7. Hypothyroidism with thyroxin use
8. Epilepsy
9. Psychotic disorders
10. Pregnancy or lactation period
11. Woman of childbearing potential without efficient contraception
12. Participant to other therapeutic studies during the month before inclusion
13. Inability to receive a clear information on the research
14. Inability to participate to the totality of the study
15. Non affiliation to social security (beneficiary or assignee)
16. Refusal of signing the consent form

Sites / Locations

ICM Institute

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

Placebo Comparator

Arm Label

Arm Description

Coenzyme Q10 (CoQ10) - is a Dietary complement that contains Coenzyme Q10 (Ubidecarenone) well characterized nano particles.

Placebo of CoQ10 is a translucent nano-emulsion of well characterized nano particles. Lecithin (and) Alcohol (and) Glycerin (and) Aqua

Outcomes

Primary Outcome Measures

Albuminemia

Evolution of albuminemia every 6 months during 2 years.

Secondary Outcome Measures

SARA scale

Evolution of clinical criteria (SARA and CCFS, which represent quantitative scales to assess cerebellar ataxia evolution)

CCFS

Evolution of clinical criteria (SARA and CCFS, which represent quantitative scales to assess cerebellar ataxia evolution)

prealbuminemia

Evolution of biological criteria (prealbuminemia, cholesterol, alfa-foeto-protein) every 6 months during 2 years.

cholesterol

Evolution of biological criteria (prealbuminemia, cholesterol, alfa-foeto-protein) every 6 months during 2 years.

alfa-foeto-protein

Evolution of biological criteria (prealbuminemia, cholesterol, alfa-foeto-protein) every 6 months during 2 years.

Oculomotor evaluation

Oculomotor evaluation to assess oculo motor apraxia evolution [Time Frame: Each year during 2 years.]

EQ5D - PHQ9

Quality of life evolution (self-administered questionnaire EQ5D - PHQ9) every 6 months during 2 years.

Full Information

NCT ID

NCT02333305

First Posted

September 29, 2014

Last Updated

November 3, 2017

Sponsor

Assistance Publique - Hôpitaux de Paris

1. Study Identification

Unique Protocol Identification Number

NCT02333305

Brief Title

Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10

Acronym

AOA1

Official Title

Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10

Study Type

Interventional

2. Study Status

Record Verification Date

October 2017

Overall Recruitment Status

Completed

Study Start Date

June 2013 (undefined)

Primary Completion Date

September 2017 (Actual)

Study Completion Date

September 2017 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Assistance Publique - Hôpitaux de Paris

4. Oversight

Data Monitoring Committee

5. Study Description

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.

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Ataxia-oculomotor Apraxia 1

Keywords

Ataxia with Oculomotor Apraxia type 1, CoQ10, hypoalbuminemia

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 3

Interventional Study Model

Parallel Assignment

Model Description

coenzyme Q10

Masking

ParticipantCare ProviderInvestigatorOutcomes Assessor

Masking Description

placebo

Allocation

Randomized

Enrollment

19 (Actual)

8. Arms, Groups, and Interventions

Arm Title

Arm Type

Experimental

Arm Description

Coenzyme Q10 (CoQ10) - is a Dietary complement that contains Coenzyme Q10 (Ubidecarenone) well characterized nano particles.

Arm Title

Arm Type

Placebo Comparator

Arm Description

Placebo of CoQ10 is a translucent nano-emulsion of well characterized nano particles. Lecithin (and) Alcohol (and) Glycerin (and) Aqua

Intervention Type

Dietary Supplement

Intervention Name(s)

CoQ10

Intervention Description

• 2 dosages according to patient weight: Weight < 50kg : 20 drops 3 times a day (150 mg / d) Weight ≥ 50 kg : 40 drops 3 times a day (300 mg / d)

Intervention Type

Other

Intervention Name(s)

Sanomit Placebo

Intervention Description

• according to patient weight: Weight < 50kg : 20 drops 3 times a day Weight ≥ 50 kg : 40 drops 3 times a day

Primary Outcome Measure Information:

Title

Albuminemia

Description

Evolution of albuminemia every 6 months during 2 years.

Time Frame

2 years

Secondary Outcome Measure Information:

Title

SARA scale

Description

Evolution of clinical criteria (SARA and CCFS, which represent quantitative scales to assess cerebellar ataxia evolution)

Time Frame

2 years

Title

CCFS

Description

Evolution of clinical criteria (SARA and CCFS, which represent quantitative scales to assess cerebellar ataxia evolution)

Time Frame

2 years

Title

prealbuminemia

Description

Evolution of biological criteria (prealbuminemia, cholesterol, alfa-foeto-protein) every 6 months during 2 years.

Time Frame

2 years

Title

cholesterol

Description

Evolution of biological criteria (prealbuminemia, cholesterol, alfa-foeto-protein) every 6 months during 2 years.

Time Frame

2 years.

Title

alfa-foeto-protein

Description

Evolution of biological criteria (prealbuminemia, cholesterol, alfa-foeto-protein) every 6 months during 2 years.

Time Frame

2 years.

Title

Oculomotor evaluation

Description

Oculomotor evaluation to assess oculo motor apraxia evolution [Time Frame: Each year during 2 years.]

Time Frame

2 years

Title

EQ5D - PHQ9

Description

Quality of life evolution (self-administered questionnaire EQ5D - PHQ9) every 6 months during 2 years.

Time Frame

2 years

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion criteria : 1. Diagnosis of ataxia with oculomotor apraxia type I (AOA1) confirmed by genetic molecular analysis 2. Age ≥ 18 years 3. Hypoalbuminemia 4. Efficient contraception for women of childbearing potential (with pregnancy test during each visit) 5. Signature of the written informed consent form 6. Presence of a support person (for patient with cognitive disorders) Exclusion criteria : 1. Hypersensitivity to one of the excipients (glycerin, ethanol, lecithin) 2. Absence of hypoalbuminemia 3. During the 2 months before inclusion : Use of CoQ10 Treatment with antioxidants (vitamin C) and statins Use of drugs affecting mitochondrial activity Anti-cholesterol, thyroid hormones, anti-arrhythmic compounds, warfarin, metformin or clozapine 4. Treatment with vitamin E, calcium, magnesium and/or other vitamins with a concentration superior to 149 UI during more than 3 months before inclusion 5. Use of drugs interfering with catacholamine metabolism (reserpine, amphetamine, or inhibitors of the monoamine oxidase A, methylphenidate, cinnarizine) during the month before inclusion 6. Non balanced treatment with anxiolytics, hypnotics, tranquillizers and/or antidepressants during the month before inclusion 7. Hypothyroidism with thyroxin use 8. Epilepsy 9. Psychotic disorders 10. Pregnancy or lactation period 11. Woman of childbearing potential without efficient contraception 12. Participant to other therapeutic studies during the month before inclusion 13. Inability to receive a clear information on the research 14. Inability to participate to the totality of the study 15. Non affiliation to social security (beneficiary or assignee) 16. Refusal of signing the consent form

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Perrine Charles, MD, PhD

Organizational Affiliation

Assitance Publique - Hopitaux de Paris

Official's Role

Principal Investigator

Facility Information:

Facility Name

ICM Institute

City

Paris

ZIP/Postal Code

75013

Country

France

12. IPD Sharing Statement

Plan to Share IPD

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Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10

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