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Study on the Effects of Ubiquinol and Ascorbic Acid for Patients with Mitochondrial Disorders and Cerebellar Ataxias

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying the effects of a treatment for patients with mitochondrial disorders and cerebellar ataxias. These are conditions that affect the energy production in cells and the coordination of movement, respectively. The treatment being tested is a medication called Ubiquinol, which is a form of coenzyme Q10, a substance that helps cells produce energy. The medication is provided as a powder for oral suspension, meaning it is mixed with liquid and taken by mouth.

The purpose of the study is to determine how safe and effective Ubiquinol is for people with these conditions. Participants in the study will take the medication for a period of 18 months. During this time, they will have regular visits to monitor their health and any changes in their condition. The study will look at various aspects such as cognitive function, language skills, quality of life, and the severity of symptoms. Additionally, the study will assess the levels of coenzyme Q10 in the blood to understand how the body processes the medication.

Throughout the study, participants will be asked about any side effects they experience. The study aims to provide valuable information on whether Ubiquinol can be a beneficial treatment option for those with mitochondrial disorders and cerebellar ataxias. This research could lead to improved management of these conditions and enhance the quality of life for those affected.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, eligibility is confirmed based on age, diagnosis, and other criteria. Consent is required from participants or their guardians.
Step 2
Baseline visit
The baseline visit involves initial assessments to establish a starting point for the study. Participants must abstain from other forms of Coenzyme Q10 and statins for 30 days prior to this visit.
Step 3
Medication administration
Participants receive Quinol 10, a powder for oral suspension containing Ubiquinol and ascorbic acid. The dosage is 150 mg per sachet, taken orally as directed.
Step 4
Regular follow-up visits
Regular follow-up visits are scheduled to monitor progress and assess any adverse effects. These visits include interviews and assessments of cognitive function, language skills, quality of life, and symptom severity.
Step 5
Plasma monitoring
CoQ10 plasma levels are monitored at specific visits (V1, V3, V4, V5, and V6) to evaluate the treatment's effectiveness.
Step 6
Biomarker analysis
Blood samples are taken at visits V1, V3, V5, and V6 to measure biomarkers such as FGF21 and GDF15, which help assess the treatment's impact.
Step 7
Final assessment
At the end of the 18-month treatment period, a final assessment is conducted to evaluate changes from the baseline in various health aspects, including the Vineland Adaptive Behaviour Scale.

Who can join the trial?

7 criteria

Must be at least 1 year old at the time of the Screening Visit. Both children and adults can participate, with a maximum age of 90 years.
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Must have a diagnosis of at least one of the following:
- A confirmed genetic diagnosis of a mitochondrial disease, which is a condition affecting the energy-producing parts of cells.
- Cerebellar ataxia, which is a disorder affecting balance and coordination, with or without a specific genetic diagnosis.
- Must have a Gross Motor Function Classification System (GMFCS) level of less than 4 at the start of the study. This system measures how well someone can move and perform activities.
- Must agree to follow the study procedures. For participants under 18 years old, their parent(s) or legal guardian(s) must agree to the study requirements, including regular follow-up visits. They must also give their consent for the child to join the study. Participants aged 12 to 18 should sign a document showing they understand and agree to participate.
- Males and females who can have children must agree to use an effective method of birth control, such as implants, injections, skin patches, birth control pills, barrier methods, or intrauterine devices, from the time they sign the consent until 30 days after the last dose of the study drug or if they leave the study early. Male participants must agree not to donate sperm during the study and for at least 30 days after the last dose of the study drug or early termination. If no other birth control methods are used, a double-barrier method (like a condom with spermicide) is required.
- Must be able to avoid taking other forms of Coenzyme Q10 and/or statins for 30 days before the start of the study and throughout the study. Coenzyme Q10 is a supplement, and statins are medications used to lower cholesterol.

Who cannot join the trial?

5 criteria

Patients who do not have a confirmed genetic diagnosis of a mitochondrial disorder or cerebellar ataxia. Mitochondrial disorders are problems with the parts of the cells that produce energy. Cerebellar ataxia is a condition that affects balance and coordination.
Patients who are not within the specified age range for the study.
Patients who are not part of the specified clinical trial group.
Patients who are not male or female, as both genders are included in the study.
Patients who are not considered part of a vulnerable population. A vulnerable population includes groups who may need special protection or care.

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Verified sites

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Verified
Hospital Sant Joan De Deu Barcelona
Esplugues De Llobregat, Spain
Verified
Hospital Universitario 12 De Octubre
Madrid, Spain

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Investigated drugs

Ubiquinol is being studied for its potential benefits in patients with mitochondrial disorders and cerebellar ataxias. It is a form of coenzyme Q10, which is a substance that helps produce energy in cells. The trial aims to assess how safe and effective Ubiquinol is for individuals with these specific health conditions.

What is already known about the treatment

Ubiquinol – Ubiquinol is administered orally, typically in the form of capsules or tablets. It is currently being studied in a Phase IIa clinical trial to assess its safety and efficacy for treating mitochondrial disorders and cerebellar ataxias. The main therapeutic indication for Ubiquinol is to support cellular energy production, particularly in conditions where energy metabolism is impaired. At the molecular level, Ubiquinol acts as an antioxidant and plays a crucial role in the electron transport chain within mitochondria, helping to produce ATP, the energy currency of cells. It is classified pharmacologically as a coenzyme and antioxidant.

Investigated diseases

Mitochondrial Disorders
These are a group of conditions caused by problems in the mitochondria, the parts of cells that produce energy. Symptoms can vary widely but often include muscle weakness, neurological issues, and fatigue. The progression of these disorders can lead to more severe symptoms over time, affecting organs and systems that require a lot of energy, such as the brain, heart, and muscles. The severity and specific symptoms depend on which cells are affected and the extent of the mitochondrial dysfunction.
Cerebellar Ataxias
This is a condition characterized by a lack of muscle coordination and balance due to problems in the cerebellum, the part of the brain that controls movement. Symptoms may include unsteady walking, difficulty with fine motor tasks, and speech problems. The progression can lead to worsening coordination and balance issues, impacting daily activities. The severity and progression can vary depending on the underlying cause and whether it is associated with other neurological conditions.