Case Study: Duchenne Muscular Dystrophy Webinar

The 7^th September 2024 marks the first ever Duchenne Awareness Day. This is a huge milestone for the global rare disease community, as it represents the first formal recognition by the UN of a day dedicated to a rare disease.

Rare diseases are classed as those affecting less than 2,000 people per year – between 5 and 10,000 diseases fall under this category in the UK. Due to limited patient populations and the wide range of diagnoses, rare diseases are particularly difficult to treat, with many of them lacking treatment options entirely.

Duchenne Muscular Dystrophy (DMD) is a rare disease and almost exclusively affects young males. DMD is usually diagnosed in patients between the age of 3 and 6 and life expectancy is usually between 18 and 25 years. The disease is characterised by progressive deterioration of skeletal muscle leading to rapid loss of mobility in children, eventually leading to loss of function of cardiac and respiratory function.

At medDigital, we supported on a variety of projects relating to DMD, bridging the gap between pharma and those on the DMD frontline: patients, carers, researchers and doctors. We hosted advisory boards to gain feedback on current practices, new technologies and patient focused initiatives, involving both doctors and patients to build a future for DMD treatment. Further, we attended multiple global rare disease conferences to inform both medical and commercial teams of recent scientific breakthroughs in the rare disease space.

Aside from our professional activities, we further advocated for the DMD community within medDigital, hosting two educational webinars to uncover the barriers facing the rare disease community. One DMD-focused webinar featured two rare disease experts, Dima Martini and Maryna Kolochavina. They raised awareness over the following challenges in Duchenne’s:

·        Lack of available treatments due to unsuccessful clinical trials, or lack of funding.

·        Difficulty demonstrating value in a small patient population.

·        Access, eligibility and reimbursement for therapies in rare diseases.

·        New initiatives and potential solutions to combat these barriers.

Another webinar, in partnership with the UK charity Gene People, saw the Chief Executive Samantha Barber delve into the unmet needs of patients with rare diseases and the difficulties faced by patient organisations including lack of funding and rising demand for services.

There still is a vast unmet need for treatment in rare diseases. In Duchenne, there are currently very few treatment options available – and even so, those treatments are available only delay progression of muscle weakness rather than restoring lost function. In addition to this, many treatments are only available to ambulatory patients, meaning many individuals are ineligible for consideration. Ongoing clinical trials aiming to better understand this condition are heavily impacted limited by small patient populations and lack of widespread awareness and funding. Increased awareness and research funding are vital to tackle these barriers to treatment for rare diseases. The UK government’s latest approval of a £400 million budget for clinical trials from 2024 will hopefully help bring much needed progress to research. 

You can find out more about DMD here. If you’d like to find out more about our work with DMD and Pharma, contact us now.