Emerging gene therapies provide new option to children wilth Duchenne Muscular Dystrophy

Multiple companies develop gene therapies to improve the state of children suffering from Duchenne Muscular Dystrophy, a rare and debilitating genetic disease that leads to muscle degeneration and substantially reduced life expectancy.

Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder that primarily affects young boys. It is characterized by a deficiency of the dystrophin protein, which plays a crucial role in maintaining the structural integrity of muscle fibers. Without sufficient dystrophin, muscle cells become fragile and prone to damage, leading to progressive muscle degeneration and weakness.

The development of DMD involves a sequence of events. The absence of dystrophin triggers chronic inflammation, accompanied by degeneration of muscles as they gradually get replace by dysfunctional scar and fat tissue. This process impairs muscle function over time, affecting mobility and daily activities. Although primarily affecting skeletal muscles, including those involved in walking and breathing, DMD may also compromise the heart muscle.

Individuals with DMD often exhibit delayed motor skill development and muscle weakness in early childhood. As the disease progresses, walking becomes more difficult, and respiratory problems arise. Unfortunately, most DMD patients have a significantly reduced life expectancy, with the average lifespan usually only reaching the late teens or early twenties. Respiratory failure and cardiac complications are the main causes of death in people with DMD.

According to estimates, about 20 000 children are diagnosed with DMD globally, every year and about 1 out of 5 000 boys are born with this disease in Norway. Despite the severity of this condition and the large patient population, there is currently no cure for it. Available treatments aim to manage symptoms and improve quality of life. There are approved, so called exon skipping therapies that help patients with specific mutations to produce a shorter, somewhat functional version of dystrophin.

As there is still a high unmet medical need in this severe disease, multiple companies that work on gene therapies aiming to alleviate the genetic defect of dystrophin production are in alignment with the investment focus of our Arctic Aurora LifeScience and Arctic Aurora Biotech Select funds. The first gene therapy from portfolio company Sarepta Therapeutics was approved in June 2023, while other companies also develop similar therapies. Another holding in both of our portfolios, Regenxbio recently reported promising early data from its gene therapy study, where in certain patients it could restore more than 75% of a shortened version of dystrophin, while substantially reducing a marker of muscle damage, which is quite competitive. The stock appreciated more than 33% this month due to this announcement. At the same time Pfizer is also working on a similar treatment.

As research progresses, emerging therapies like gene therapies and exon-skipping drugs offer hope for extending the lifespan and enhancing the quality of life for those affected by Duchenne Muscular Dystrophy and we continue to look for and invest in innovative companies working on cure for this debilitating disease.