Why We Should Care About Rare Disease Research

By Dr. Naseem Amin

Like many others in healthcare, when I started my career, my initial attention was on treatments for diseases that affect large numbers of people. This is where the media spotlight, and public interest, often falls and, of course, addressing these disorders is important. However, as I ventured into the rare diseases space, I was surprised by the lack of funding and innovation these diseases often faced. Access to life-saving or life-enhancing treatments should not be determined by the rarity of the disease; on the contrary, our greater understanding today of precise and predictive medicine should encourage us to do more with small patient populations.

A qualified medical doctor, I have spent most of my career in industry – working in a variety of roles in research and development, corporate and business development, venture capital, and marketing, for a number of healthcare and life sciences organizations. It was during my time at Genzyme Therapeutics that I began to see how underserved and overlooked the area of rare diseases was. NIH reports that there are more than 7,000 rare diseases globally. Official definitions of a rare disease vary but most countries talk about them affecting one in 2,500 people in the population. While the dial is starting to shift, many rare diseases are still neglected, under-diagnosed and poorly understood – and, as a result, the experience of patients and their families can be truly awful.

Wilson Disease

Wilson disease is a prime example of this. Wilson disease is a rare inherited disorder affecting approximately one in 30,000 people worldwide. It is characterized by the gradual accumulation of dietary copper due to deficient copper transportation in affected patients. Without effective treatment, Wilson disease causes copper to build up initially in the liver, then the nervous system, eyes, kidneys, bones, heart, and other systems via the bloodstream. Most common presentations of Wilson disease include liver and neurological diseases with symptoms ranging from mild to severe. These develop over time due to the accumulative nature of the disease which, left untreated, can be fatal. Due to the systems involved, effects are broad and include, but are not limited to, edema, jaundice (associated with liver disease), uncontrolled movement and mental health disorders (neurological effects). Despite this, Wilson disease has had just one approved first-line treatment for the last 70 years, a known limitation of which is intolerance – either initially or built over time – leaving many patients without a sustainable treatment option. Patients are often undiagnosed or misdiagnosed for many years, and unfortunately suffer the consequences of this. I met a young woman’s mother several years ago, who shared her daughter’s journey with me. Her previously healthy child developed  symptoms of Wilson disease but was not diagnosed by the various specialists who saw her, including child psychiatrists and neurologists.  Sadly, she was initially misdiagnosed as having a mental health disorder. Then over the years, she grew weaker and weaker as the side effects of the disease, left untreated, took their toll; by the time I met her mother she was in a wheelchair. She was eventually referred to a hepatologist who made the diagnosis. I have never forgotten that interaction and know that she is only one of many. We can – and must – do more to help patients with rare diseases, to receive a diagnosis and develop medicines that help these patients.

The Importance Of Teamwork And Partnerships

I sometimes joke about being “an accidental CEO”. Becoming a CEO was never my intention or ambition, but I was determined to improve the patient experience in rare disease. So, when the opportunity arose to become CEO of Orphalan, I took it. The company's commitment to developing innovative treatments for patients with Wilson disease aligned with my passion for rare disease was hard to resist. I wanted to work with a team who were making a difference for these patients in need and that’s exactly what I found at Orphalan.

Orphalan was founded in 2011 to advance research from the L’Assistance Publique des Hôpitaux de Paris (APHP) looking at an alternative treatment option for patients with Wilson disease who were intolerant to D-penicillamine, the standard-of-care. One such drug that was developed was found to require multiple dosing and refrigeration, making it inconvenient for patients and leading to its eventual discarding. Orphalan worked to optimize this drug for a better patient experience, targeting the challenges of stability and dosage, eventually leading to a product which has been available in Europe since 2017 and one which has just been launched in the US. It’s a good reminder of how different parts of the healthcare and scientific ecosystems need to work together to find better options and get them to patients.

The Future Of Rare Disease Treatment

I’m pleased that the world of rare diseases is starting to receive more attention, with new players continuing to emerge across the broad spectrum of disorders and applying learnings from other diseases. We are seeing transformative technological advances in DNA sequencing and gene therapy, making it easier to focus on more personalized approaches to rare disease treatment. The value of this is now being recognized by major players in biotech and pharma. For example, the largest pharma M&A deal last year was Amgen's acquisition of rare disease-focused Horizon, reflecting the opportunity and potential within the rare diseases field. It is anticipated that, over the next 10 years, the rare disease treatment market will grow by more than 8.5%. However, developing treatments for rare diseases is not without its challenges.

Building An Evidence Base

With fewer people affected by these rare conditions, building an evidence base can be difficult. Public support, through raising awareness and highlighting the challenges faced by those with rare diseases, is essential in driving progress forward. I encourage everyone to join the conversation and help spread the word about the importance of finding treatments for under-represented populations. With the support of the public and the dedication of those in the rare disease field, we can ensure that everyone has access to the treatments they need, regardless of how rare their disease may be.

Dr. Naseem Amin is CEO and director of Orphalan. He has 30 years of international industry experience in R&D, corporate and business development, venture capital, and marketing.