The Science Behind Supports Rare Disease Day

Rare Disease Day is an important annual observance that raises awareness about rare diseases and their impact on patients’ lives. First established in 2008 by EURODIS, it has since become a global event with over 100 countries participating. Rare Disease Day aims to increase awareness among the public, policymakers, and healthcare professionals about rare diseases and the challenges faced by people living with these conditions: including delays in diagnosis, a lack of available treatments, and social isolation.

One such rare disease is myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK), a progressive neurological condition caused by pathogenic variants in the KCNC1 gene which codes for the Kv3.1 potassium channel. This disease is characterised by a form of progressive myoclonus epilepsy, which typically begins between the ages of 3 and 15 years. The first symptoms may include ataxia and myoclonus, which are unsteadiness and difficulty coordinating movements, along with generalised tonic-clonic seizures. The symptoms are progressive, and individuals with MEAK often need to use a wheelchair by their late teenage years because of movement difficulties and myoclonus. Many individuals with MEAK report temporary improvement of symptoms when they have a high fever. Seizures may become less frequent in adulthood, but other neurological complications, including myoclonus, ataxia, and tremor, may worsen.

The treatment of MEAK is complex and may require a multidisciplinary approach involving a neurologist, genetic counsellor, physical therapist, and other healthcare providers. There are several experimental treatments that may be available for individuals with MEAK. These may include gene therapy or other novel treatments that target the specific genetic mutation causing the disorder. However, these treatments are still in the early stages of development and may not be widely available.

Autifony Therapeutics is about to initiate a clinical drug trial in patients with MEAK with their novel Kv3.1 modulator, AUT00201. Testing new pharmaceutical treatments in patient populations is crucial to ensure their safety, efficacy, appropriate dosage, and ethical considerations. It helps bring new treatments to patients in need and ensures that drugs are safe and effective for human use. A critical part of these first-in-patient trials is the inclusion of objective biomarkers that can help to confirm drug efficacy. The Science Behind is providing both transcranial magnetic stimulation (TMS) and electroencephalography (EEG) measures for the study. TMS and EEG are both non-invasive and highly sensitive tools used in clinical trial testing to provide objective measures of brain function, making them valuable in evaluating the effects of a treatment and detecting even subtle changes in brain activity.

Clinical drug trials are essential to find new treatments for rare diseases like MEAK. They require the support and collaboration of a range of professionals from various disciplines, including researchers, clinicians, patients, and their families. It is a long and challenging process, but their outcomes could change the lives of thousands of people suffering with rare diseases. The Science Behind is proud to be part of a collaborative effort to develop new treatments for rare diseases like MEAK. By testing new drugs in patients and using sensitive tools like TMS and EEG, we aim to contribute to finding effective treatments for rare diseases and improving the lives of those affected by them.