Abliva KL1333 Study

What is this study about?

Mitochondria can be found in most cells of the body and are considered the powerhouse of the cell as they produce energy via a complex series of biochemical reactions. Primary mitochondrial diseases are a set of diseases that are caused when there is a fault in this series of reactions. They vary in severity, and in the body systems that they affect, therefore people can develop very different signs and symptoms of mitochondrial disease. The aim of this study is to help people in the future with primary mitochondrial diseases.

The purpose of this study is to find out whether an investigational drug called KL1333 is safe and tolerated when taken, how much of the study drug gets into your blood (pharmacokinetics) and to determine how the study drug affects other biological markers that may be involved in mitochondrial disease (pharmacodynamics). KL1333 is thought to promote mitochondrial biogenesis (the production of new mitochondria) and improve the availability of components that are involved in energy production. It does this by modulating a coenzyme called NAD+ (nicotinamide adenine dinucleotide), which is found in all living cells and is important for energy production.

Who can take part?

Male and female patients with any stable mitochondrial disease (which is genetically confirmed) aged between 18 and 75 years (inclusive) with a body mass index between 15.0 and 32.0 kg/m2 (inclusive). The body mass index uses your height and weight to give you a score, this score is used to work out if your weight is within a healthy range.

If you agree to take part in this study, you will first have some screening tests, including height and weight, at the study site to find out if you meet all of the requirements.

What's involved in taking part?

The study requires you to attend the study site a minimum of 6 occasions. You will firstly attend for a screening visit (which will take place up to 35 days before your first day of treatment). If you meet all requirements, you will be enrolled onto the study where there will be 10 days of treatment, followed by 5 days of follow-up. Two of the occasions when you visit the study site will include overnight stays either at the study site, or at nearby accommodation, for up to 2 nights. Other study visits are expected to take a minimum of 2 hours.

At study visits, a series of procedures will take place including blood tests, interviews with clinical staff, physical examination, questionnaires, vital signs (e.g. blood pressure, pulse rate and temperature) and electrocardiograms (a tracing of the electrical activity of your heart). You may also be asked to provide stool samples. You will be asked to take the study drug, which is a tablet that can be swallowed, once a day (in the morning) for a total of ten days. Some doses of study drug will be administered at the study site and some you will need to take at home.

Are there any risks?

The study involves a placebo, which looks like the study drug but does not have any active substance in it. If you get assigned to the placebo you will not be getting additional treatment for your condition. Whether you receive study drug or placebo will be determined at random. You will have a 75% (3 in 4) chance of receiving study drug, and a 25% (1 in 4) chance of receiving placebo. Even if you get the active drug, as it is experimental, it may not help your health problem, which may stay the same or might get worse. In addition, there may be side effects of the study drug.

There are also possible risks and discomforts from study procedures including possible:

• Discomfort/ pain, bruising, bleeding, infection, and rarely, fainting or nerve damage, when taking blood samples and inserting a cannula (a thin tube which is inserted into a vein to collect blood samples).
• Skin rash and/ or darkening or lightening of the skin where ECG sticky patches are applied.
• Feeling anxious or upset after being asked to complete some questionnaires. You do not have to answer any questions that upset you.

The medical team will discuss any possible risks with you in detail when you attend the clinic.

Who will benefit?

The results of the study might help people with mitochondrial disease in the future. The assessment of the study drug may lead to its further development and contribute to the advancement of the treatment options for people with mitochondrial disease.

How do I find out more?

If you are interested in taking part in this research, or would like any further information, please contact the study team directly:

Iwona Skorupinska: [email protected]
Direct line: 0203 108 7515