Every year, the last day of February is designated as a 'World Rare Disease Day', and many organizations host events to raise awareness and help patients.
In honor of this, we're devoting this edition to the topic of rare diseases.
The rare disease market is often viewed as an attractive pipeline due to its low competitive intensity, distinct unmet needs, and high drug prices, which are characterized by high moats (垓子 - a proprietary competitive advantage that protects a company from competitors; "barriers to entry") that are not easy to develop.
What are the challenges of commercializing in the rare disease market? As the term "rare disease" implies, the inherent nature of the disease is different from that of a chronic or common disease, so the challenges faced by commercial are also different.
1. Definition of a Rare Disease
It is usually defined in terms of prevalence, meaning a disease with a number of patients of 7 or less per 10,000 in the United States and 5 or less per 10,000 in Europe. In terms of prevalence, it is defined as a disease with a total number of patients of 500,000 or less in Japan and 20,000 or less in Korea (which translates to less than 4 per 10,000 based on a total population of 50 million), but there is no universal definition that has been established worldwide.
2. Characteristics of Rare Diseases
There are more than 7,000 different types of rare diseases, but about 80% of patients fall within 350 different diseases. In terms of etiology, more than 80% are genetic and, unlike cardiovascular/metabolic diseases or cancer, are not related to the patient's usual lifestyle or environmental influences. Due to genetic characteristics, about 75% of patients are children and adolescents, often with severe and life-threatening conditions. And unfortunately, 35% of rare disease deaths occur before the age of one.
3. Rare Disease Therapeutics Market Forecast
The market is expected to grow at a CAGR of 12.48% (2022-2030) from $152.3 billion in 2021 to $438.9 billion in 2030. It is said that, only 5% of the 7,000 rare diseases currently have approved treatment options. Research and development of a novel drugs is extremely expensive, however, the growing awareness of rare diseases and their distinct unmet needs are clearly an opportunity for pharma biotech companies.
Particularly, Oncology accounts for the largest share among rare disease treatments. Given the current state of research and investment, it is anticipated that Oncology will exhibit the most substantial growth in the future, followed by Hematology (hereditary angioedema, hemophilia, etc.), Neurology, Infectious diseases, and Metabolic disorders (Gaucher disease, hypoparathyroidism, Hunter syndrome, Fabry disease, etc.).
Among the numerous difficulties you might encounter, we'd like to focus on the challenge of 'finding patients'.
The absence of patients can be detrimental. This challenge is not limited to pharmaceutical companies; it also affects patients and the doctors who care for them.
The biggest problem is that doctors have very low awareness of the disease. This leads to referrals from primary care to secondary, tertiary, and tertiary specialists and bouncing between different doctors, in different hospitals.
About 40% of patients with rare disease experienced initial misdiagnosis, and 25% of patients had to wait for about 5 to 30 years to be diagnosed.
As time passes, these patients become neglected within the healthcare system, ultimately resulting in increased morbidity and mortality.
In order to rescue these patients, early finding of underdiagnosed patients is highly important.
If a disease has a low level of awareness and little interest, it is not surprising that there are no medications available. This forms a vicious cycle (low awareness, little interest, no treatments...).
Even if you are a specialist in a specific rare disease area, you may or may not see one or two patients with the disease in your entire career. So, it would be challenging to determine how to diagnose or which patients to refer.
Moreover, if there's no established diagnostic process, HCPs would have to act as a pioneer, trying to figure out the best treatment options in the absence of external patient supports or reimbursementsx.
In order to find out patients and diagnose properly, improving disease awareness of diagnosis and treatment among medical staff is a must.
Besides all those challenges of pre-launch, we must also pay attention to challenges that arise after the product launch.
1. Where are the patients?
2. Where should we intervene?
3. Who do we need to engage?
4. What are the obstacles and opportunities?
You may have to answer to these questions above, in order to build the appropreate strategy.
What is 👉Patient Journey?
It is a sequential steps that a patient takes, from the first experiencing symptom onset to receiving an accurate diagnosis.
Understanding each step and gathering information throughout the journey can give you some valuable insights regarding where to, for whom to, and how to take an intervention to find patients earlier and accelerate disease management.
But drawing a patient journey is not always easy - here are some actionable tips.
1. Primary research (interviews - patients, medical staff, focused group discussions, etc.)
2. Patients chart audit study (costly and time consuming)
3. Registry analysis (or collaboration with patient organizations)
4. MR field intelligence (questions need to be well-designed, and the teamwork is essential!)
Keep in mind that, in order to identify missing patients, the key is to provide as much chances for diagnosis as we can on the touchpoints they encounter through the journey.
SO & COMPANY is a partner in the strategic content development of various clients from the product launch stage to the late life cycle in the specialty fields of Rare Disease, Hematology, Oncology, CV, and Endo. Not only that, but the company is striving to continue to develop through the development of new services.
Our blog is a constantly updated source of industry strategies, insights, and trends. Stay tuned!