ASCORBIC ACID|UBIQUINOL for Mitochondrial disorders|Cerebellar ataxia

Inclusion criteria

• {"criterion_text":"- Minimum age 1 year at the time of Screening Visit. Both pediatric and adult patients will be included, with maximum age of 90 years.\n- Diagnosis of at least one of the following: i.\tGenetic diagnosis of mitochondrial disease, ii.\tCerebellar ataxia (with or without molecular diagnosis).\n- Gross Motor Function Classification System (GMFCS) level <4 at baseline\n- 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\n- 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.\n- 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

• {"criterion_text":"- Non-Progressive cerebellar ataxia.\n- Allergy to Coenzyme Q (Ubiquinone/Ubiquinol) or to excipients such as L-ascorbic acid (E414), gum Arabic (E414), dextrin (E1400) or oat/soy lethitin\n- 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.\n- International normalized ratio ≥1.5×ULN at time of screening or clinically significant bleeding, as determined by the investigator.\n- Comorbidities that may confound study results (e.g., fat malabsorption syndrome) in the opinion of the investigator\n- 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.\n- Illicit drug use 30 days prior to screening and during the study is prohibited"}

Primary endpoints

• {"endpoint_text":"- 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.","definition_or_measurement_approach":"Assessment based on subject reporting and interviews at each visit over 18 months to record presence or absence of adverse events."}
• {"endpoint_text":"- Change from baseline in the Vineland Adaptive Behaviour Scale, III edition (VABS-III) at month 18","definition_or_measurement_approach":"Change from baseline measured by VABS-III score at month 18 compared to baseline."}

Secondary endpoints

• {"endpoint_text":"- 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","definition_or_measurement_approach":"Evaluated as change from baseline in specified assessments at month 18 (assessments not enumerated in CTIS record)."}
• {"endpoint_text":"- 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","definition_or_measurement_approach":"Change from baseline in plasma CoQ10 levels assessed at Visits V1, V3, V4, V5 and V6."}
• {"endpoint_text":"- Change from baseline in other biomarkers measured by blood analytical assessments (Visits V1, V3, V5, V6): FGF21, GDF15 analysis in plasma.","definition_or_measurement_approach":"Change from baseline in plasma biomarkers FGF21 and GDF15 measured at Visits V1, V3, V5 and V6."}

Spain

Earliest CTIS Part Ii Submission Date

20-11-2024

Latest Decision Or Authorization Date

26-11-2024

Processing Time Days

6

Number Of Sites

2

Number Of Participants

90

Primary sponsor

Full Name

Fundacio Sant Joan De Deu

Organisation Type

Laboratory/Research/Testing facility

Country Of Registered Address

Spain