The European Medicines Agency (EMA) recently made a remarkable decision by designating cannabidiol (CBD) as an orphan drug for the treatment of Leigh syndrome, a rare mitochondrial disorder. Researchers from the Mitochondrial Neuropathology Research Group at the UAB Institut de Neurociències (INc-UAB), including Drs. Emma Puighermanal, Albert Quintana, and Elisenda Sanz, petitioned for this judgement. Each identification of an orphan drug is a key step in developing new therapies for rare diseases with few available therapeutic choices.
Understanding orphan drug designation
In the European Union (EU), there are roughly 26 million people who have a rare disease. The European Medicines Agency (EMA) has an essential function in supporting the development and authorisation of medicines for rare diseases. Such treatments are called ‘orphan drugs’ in the medical world.
A pharmaceutical must meet certain requirements to become an orphan drug. First, it should treat an illness that seriously endangers life or leads to permanent disability. Additionally, the prevalence of this ailment inside the European Union must not be greater than 5 per 10,000 people, or it would be unlikely that the selling of the treatment would yield sufficient profits to cover the costs of its development.
In addition, the condition must either not currently have a sufficient method for diagnosis, prevention, or treatment. However if it does, the method must offer the ailment’s sufferers significant benefits. These strict requirements regulate the creation of cures for severe and rare diseases when there is a critical medical need.
Leigh syndrome background
Leigh syndrome is a rare inherited neurometabolic disorder that affects the central nervous system. It is a severe neurodegenerative illness that mostly affects children. Leigh syndrome can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase.
In people with Leigh syndrome, the energy-producing centres of the cell called mitochondria operate improperly. Mutations in mitochondrial DNA disrupt the energy pathways that power cells in a region of the brain involved in motor movements. The persistent lack of energy caused by these genetic abnormalities in the cells affects the central nervous system. This then results in the progressive decline of motor abilities.
Patients thus encounter a variety of health issues, especially with their neurological and muscular systems. There are currently no approved treatments for the genetically based condition.
CBD’s potential role in Leigh syndrome treatment
The INc-UAB research group conducted a thorough preclinical study using patient-derived cells and animal models of Leigh syndrome. Their research shows the potential for cannabidiol becoming a treatment for this uncommon illness.
They found that cannabidiol has a number of promising effects on Leigh syndrome. First and foremost, cannabidiol showed promise in treating patients’ oxidative stress and inflammation. These benefits have the ability to mitigate the harm brought on by mitochondrial malfunction, providing those suffering from this severe ailment with some light of hope.
Patients with Leigh syndrome also frequently struggle with motor and social difficulties. Cannabidiol demonstrated promise in easing these symptoms and, eventually, possibly improving the general quality of life. Another important discovery was the substance’s capacity to lessen epileptic seizures, which is a frequent comorbidity in Leigh syndrome and provides fresh hope for better seizure control.
The fact that cannabidiol increased the duration of life of mice with Leigh syndrome in animal studies was arguably the most interesting finding. This discovery increases the potential of extending the lives of those who have this uncommon disease, even though the direct translation to humans is still an open subject.
A path towards cannabidiol’s clinical trials
Drs. Emma Puighermanal and Albert Quintana are currently working toward establishing a clinical trial. This will evaluate the effectiveness and safety of cannabidiol as a treatment for Leigh syndrome in light of these promising preclinical findings. The EMA’s identification of CBD as an orphan drug opens the door for quicker development and approval procedures. Thus, it provides much-needed hope to those impacted by this ailment and their families.
The potential of CBD to improve the lives of people with Leigh syndrome offers a ray of hope in the field of rare disease therapies. However, the medical world needs more study and clinical trials.