Orphan drugs are capturing a major part of the pharmaceutical drug expenditure pie, predicted to reach $ 300 billion in sales by 2028, which represents over 22% of the budget spent on medicines globally. Orphan drugs are expected to grow at a CAGR of 12% y/y compared to 7% of non-orphan drugs in the discussed period. SMEs continue to dominate the orphan drugs new launches era, with over 75% of the new drug launches attributed to SMEs in Europe, and over 65% in the US in 2022. Most orphan drugs (about 70%) are designated and hold 1 orphan indication, while only 10% of the orphan-approved drugs hold 3 indications or more. Additionally, most orphan drugs are targeting rare or ultra rare populations (about 80%) with fewer than 1 patient per million habitants compare to the threshold of orphan drug designation of 6.5 in the US and 5 per 10000 habitants respectively.

Most of the latest orphan-approved drugs in the US and Europe in a decent order are within congenital familial, and genetic disorders, neoplasms benign & other malignancies, and blood and lymphatic system disorders. While orphan drugs capture a lot of attention both from big pharma and SMEs, identifying the precise patient population is remain a big challenge. Because of the scarcity of the disorder, (i.e., a physician might see the disorder only once in his life spam) make it somehow difficult to early diagnose the disorder. Hence, rare disease patients’ diagnostic journey is prolonged to 7 years on average, with a direct link between time and patients’ deteriorating condition. Detection and diagnosis of orphan diseases remain the main challenge of humanity, nevertheless, I can see a bright future. The technological revolution of applicable generative Artificial Intelligence (AI) is evolving on a very fast scale and is starting to proliferate for the detection and diagnosis of rare diseases. I’m bullish on countries, leveraging their big medical data, to exercise generative AI to identify signals and anomalies within big patient data that could indicate a potential hidden disorder. Shortening the patient journey is the primary mission of any rare disease company, and as much we can harness governments towards this mission, the more value we can convey to rare disease patients and their families. New legislations are introduced especially in Europe, where new pediatrics and equal and mutual benefit was introduced to make sure that all the European states could enjoy orphan drug accessibility. The new law reduces the exclusivity period to 9 years as basic, and extends it to 13 years, if certain conditions, such as PIP, impactable treatment, additional indication introduction, and equal drug distribution among the EU states are matched. Another new legislation introduces in Europe is a tradable 1-year exclusivity extension voucher for antimicrobial drugs, to encourage the development of this shortfall therapeutical area.

There is a clear upgrowing trend towards the embracement and sales of orphan drugs in ROW compared to the US as awareness and prosperity are spread among other territories globally. Orphan drug companies need to be aware of this trend and make sure their marketing and sales launch plans are calibrated and adapted to the trend. I strongly believe that countries globally will create new initiatives to support the development and reimbursement of communities, and country-specific rare disorders, to augment the needs of their specific patient population. An example would be GCC countries stepping in and support in the research & development and reimbursement of sickle cell diseases, which cause a severe impact on their patients’ population, economy, and countries’ prosperity. Taking a bold, and tailored approach by countries and governments will be more dominant and will contribute to the global rare disease community. We are only scratching the surface, with merely 9% of the rare disorders having a treatment as of date. Additionally, more than 80% of the approved drugs are only relieving the symptoms rather than tackling the condition in a curative manner. A new revolutionary era is ahead of us with cell and genetic therapies being introduced on a fast scale, with numerous groundbreaking successes, that revolutionize patients with rare diseases and their caregivers’ lives.

Although those impactable treatments are important and encouraging, their distribution among patients globally holds unbalanced access. A global reform needs to take place to make sure that rare disease patients in neglected territories or from low incomes economies will have access to these important orphan drugs. The same approach that Europe took in her new legislation of assuring the accessibility of orphan drugs in all the member states could be introduced in the same fashion in low-income economies. Moreover, an interlink between high-income economies’ sales and low-income economies’ orphan drug prices could be the founding stone of such reform. Preferably, high-income economies will embrace and finance low-income economy orphan drug accessibility. This initiative requires all the stakeholders (e.g., countries, pharmaceutical companies, and patients) to join forces towards this inspiring mission. Today more than ever the world become a small village that unites all of us towards better healthcare, prosperity, and life. With the evolution of social networks and the technological revolution, rare disease patients in Africa, for example, become more visible. Social global responsibility is capturing traction supported by Generation Y and Z who starting to dominate the world population and influence with an uplifting trajectory that will drive more visibility and care to neglected populations globally. The orphan drugs space is here to stay, with significant trapped potential that is yet to be explored. A tailored made, precision medicine approach will only stratify this trend towards a better world for rare disease patients and their caregivers.

I’m excited about the future and strive to contribute at present to promote awareness and access to orphan drugs to patients in need in ROW. Arphio’s mission is exactly that and stands by the company slogan “Rare but not Alone” for a better healthier future.