At Khondrion we are advancing the science of mitochondrial disease for the benefit of patients.
what are mitochondria?
Within all cells of the human body, mitochondria act as a powerhouse – collectively producing energy that is essential for life. When these mitochondria are defective, the result can take the form of a wide range of serious and debilitating illnesses.
what is mitochondrial disease
Mitochondrial disease occurs when mitochondria, found within all cells of the human body and responsible for producing the energy necessary for life, are defective. This can result in a wide range of serious and debilitating illnesses, signs and symptoms of which can include: cognitive problems, learning disabilities, blindness, deafness, heart failure, diabetes, fatigue, intolerance to exercise, muscle weakness and gait problems, and stunted growth. Orphan diseases of the oxidative phosphorylation system like Leigh disease, MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) spectrum disorders, MIDD (maternally inherited diabetes and deafness), LHON (Leber’s hereditary optic neuropathy) and other respiratory chain/ oxidative phosphorylation disorders, are all examples of mitochondrial disease.
how medicines are developed
Before a new medication (or drug) can be prescribed by doctors or other healthcare providers it has to be approved by government organizations such as the EMA (European Medicines Agency) or FDA (US Food and Drug Administration). For such approval, the new medication has first to be tested in humans in order to understand if it is safe and if it is effective, in other words if the drug can treat a medical condition, or disease, without harming the patients. This part of a new drug development is called clinical trials, as opposed to preclinical research which is performed on other subjects such as cultured cells or animals. Clinical trials are well-planned studies in which the safety and effectiveness of a new medication is compared to a placebo, i.e. a lookalike “pill” with no medication in it. In order to obtain objective results and interpretations, the studies are also double-blinded (or coded) meaning that neither the people giving the treatment nor the people receiving the treatment know who is getting the new medication or the placebo. The studies have a specific time duration defined by the investigators and when completed, the data are “unblinded” (or decoded) to reveal who has received the new medication or the placebo.
During this phase, the new medication is introduced to human beings for the first time. In the majority of cases the people receiving the drug, or participants, are healthy volunteers (in other words, people without a disease). The primary aim is to evaluate the safety and possible adverse effects of a new drug and therefore to determine a safe dosage that can be used in humans. During this phase investigators also study the pharmacokinetics of the drug, how fast it is absorbed, distributed, metabolized and excreted by and from the body, i.e. “what the body does to the drug”.
In this phase the effectiveness, safety and potential adverse effects of the new drug are evaluated on a small number of patients. These studies give the first indication as to whether the new drug works for the targeted disease. Optimal dosage (quantity and frequency) is also being determined during this phase.
Khondrion’s KHENERGY study was a double-blind, randomised placebo-controlled, study in 18 patients with a particular mutation in their mitochondrial genome and clinical signs of mitochondrial disease.
When a new drug has been shown to be effective and safe enough during the phase II trial it will then be tested in a large-scale study in an expanded patient population and at different geographical locations. This stage will further demonstrate the drug’s clinical efficacy, safety and optimal dosage.
This phase, also known as the post-marketing phase, takes place after the new medicine has been approved by the government organizations such as the EMA or FDA. It is designed to further evaluate the long-term effectiveness and safety of the new drug on a large group of patients. Phase IV will also possibly compare the new drug cost-effectiveness to other drugs already on the market.
patient organisations we work with
To accelerate the discovery and development of its potential medicines for mitochondrial diseases, Khondrion works closely with patients and their families, and a network of patient organisations internationally, to ensure its research programmes are always focused on patients’ needs.
progressing our investigational medicines
At Khondrion our priority is to take the path which best ensures the rapid development of our pipeline, so we can deliver the much needed, transformative medicines for patients living with mitochondrial disease. Clinical trials enable the controlled testing of investigational medicines, in defined patient populations, to establish their safety and efficacy. We believe it is in the best interests of patients to progress our pipeline through a robust clinical trial process that will enable us to be confident about the safety and efficacy of our medicines, gain regulatory approval and enable patient access as quickly as possible.
The safety and efficacy of our lead investigational medicine, KH176, are currently being established in phase II clinical trials. Completed exploratory studies have shown early indications of the potential impact it could have on the clinical symptoms of mitochondrial disease. We hope our further studies will enable us to learn more about the safety of this potential medicine and confirm its true treatment effect on mitochondrial disease-related symptoms, before submission of our research to regulators. We would encourage patients and families living with mitochondrial disease who are seeking more information, about their condition and currently available treatment and support options, to speak to their physician or local patient group.