Investigating a New Treatment: Clinical Study on Coenzyme Q (Ubiquinol) for Patients with Mitochondrial Disorders and Cerebellar Ataxias

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Fundacio Sant Joan De Deu

Participant type

Pediatric, Patients

Age range

0-17 years, 18-64 years, 65+ years

Gender

Male and Female

Therapeutic area

Diseases [C] - Nervous System Diseases [C10]

Decision date (initial)

2024-11-26

Transition trial

No

Low-intervention

No

Rare-disease indication

Yes

Vulnerable population

Yes

Funding sources

Instituto de Salud Carlos III (ISCIII)

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Efficacy, Safety

To determine the safety and efficacy of Ubiquinol in patients with 1) a confirmed genetic diagnosis of mitochondrial disease or 2) cerebellar ataxia with or without molecular diagnosis.

Secondary objectives 3

1. To evaluate the effect on (a) cognitive function, (b) language skills, (c) quality of life, (d) symptom severity, treatment response and efficacy (e) movement disorder severity of 18 months of treatment with Ubiquinol.
2. To describe the usefulness of CoQ10 plasma monitoring during treatment
3. Evaluate change from base line in other biomarkers: FGF21, GDF15 analysis in plasma.

Conditions and MedDRA coding

Mitochondrial disorders and/or cerebellar ataxias

Regulatory references

Plan to share IPD

No

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 6

1. Minimum age 1 year at the time of Screening Visit. Both pediatric and adult patients will be included, with maximum age of 90 years.
2. Diagnosis of at least one of the following: i. Genetic diagnosis of mitochondrial disease, ii. Cerebellar ataxia (with or without molecular diagnosis).
3. Gross Motor Function Classification System (GMFCS) level <4 at baseline
4. Consent to comply with study procedures. For subjects under the age of 18 (or age of consent), parent(s)/legal guardian(s) of the subject must agree to comply with the requirements of the study, including the need for frequent and prolonged follow-up; parent(s)/legal guardian(s) with custody of the subject must give their consent for subject to enrol in the study. Patients >12 years and < 18 years old should sign the approved assent document
5. Males and females of childbearing potential must be willing to use an effective method of contraception (i.e., implants, injectable, transdermal patch, combined oral contraceptives, barrier methods, and intrauterine devices) from the time consent is signed until 30 days after last dose of study drug or early termination visit. Male subjects must agree not to donate sperm during the study and for at least 30 days after the last dose of study drug or early termination visit. Note: Double-barrier method (i.e., condom with spermicide) is required if no other methods of contraception are in use.
6. Must be able to abstain from other forms of Coenzyme Q10 and / or statins for 30 days prior to the Baseline Visit and for the duration of the study.

Exclusion criteria 7

1. Non-Progressive cerebellar ataxia.
2. Allergy to Coenzyme Q (Ubiquinone/Ubiquinol) or to excipients such as L-ascorbic acid (E414), gum Arabic (E414), dextrin (E1400) or oat/soy lethitin
3. Pregnant or lactating subjects or those sexually active subjects who are unwilling to comply with proper birth control methods; females of childbearing potential must have a negative pregnancy test at Screening and during the Baseline Visit.
4. International normalized ratio ≥1.5×ULN at time of screening or clinically significant bleeding, as determined by the investigator.
5. Comorbidities that may confound study results (e.g., fat malabsorption syndrome) in the opinion of the investigator
6. Concomitant use of other form of CoQ10 and/or statins within 30 days prior to the initiation of treatment. This prohibited medication can be discontinued at the Screening Visit; if this is the case, the GMFCS assessment must be repeated to confirm inclusion eligibility after a minimum of 30 days post discontinuation, and there must be no more than a Level 4.
7. Illicit drug use 30 days prior to screening and during the study is prohibited

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 2

1. Evaluation of adverse effects related to Ubiquinol based on subject reporting for 18 months. Subject interviews during each visit assessing the presence or absence of adverse events.
2. Change from baseline in the Vineland Adaptive Behaviour Scale, III edition (VABS-III) at month 18

Secondary endpoints 3

1. Effect on (a) cognitive function, (b) language skills, (c) quality of life, (d) symptom severity, treatment response and efficacy (e) movement disorder severity of 18 months of treatment with Ubiquinol evaluated by the change from baseline in the following assessments at month 18
2. Usefulness of CoQ10 plasma monitoring during treatment determined by change from baseline in the levels of plasma CoQ10, assessed at Visits V1, V3, V4, V5, and V6
3. Change from baseline in other biomarkers measured by blood analytical assessments (Visits V1, V3, V5, V6): FGF21, GDF15 analysis in plasma.

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 1

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Fundacio Sant Joan De Deu

Sponsor organisation

Fundacio Sant Joan De Deu

Address

Calle Santa Rosa 39-57 3a Planta

City

Esplugues De Llobregat

Postcode

08950

Country

Spain

Scientific contact point

Organisation

Fundacio Sant Joan De Deu

Contact name

Neurometabolic Unit-Synaptic Metabolism Lab.

Public contact point

Organisation

Fundacio Sant Joan De Deu

Contact name

Clinical Trial Unit

Locations

1 EU/EEA country · 2 investigational sites

By country

Investigational sites

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 10 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

1 submissions — initial application plus substantial / non-substantial modifications