Rare diseases are a large group of diseases that affect a very small percentage of the population. They first became known as orphan, because pharma companies were quite uninterested in “adopting” them. Approximately 7,000 rare diseases have been identified until today, with 1 in 17 people being affected at some point during their lives. In the past few years, there has been a great number of advances in the rare disease space; however, a huge gap remains, as only a small 10% of those have a recognized treatment.
High development costs
It has been quite challenging for companies to cover the huge costs that come along with the drug development process of a potential treatment for a rare disease. A near-sighted solution to this problem is for developed drugs to have high price tags; however, raising the price of the medications will not only create a huge burden on patients but will make the treatments practically unavailable for the few who need them.
Challenging clinical trials
There are certain challenges in conducting clinical trials for rare diseases, starting with patient enrollment. There are not enough patients (by definition!) who meet the inclusion and exclusion criteria and are willing and capable to participate until the end of a trial in this space. It has not been uncommon for companies to conduct a separate trial for a few patients, or even only one, who could not participate in the main trial due to geographical reasons.
The clinical trial design for a potential rare disease drug is another difficult process for pharma. The companies struggle to design trials that could meet their goals, without this having an effect on patient enrollment. There are also certain challenges related to the trial data, as the rare disease patient populations are usually quite diverse in their clinical presentations and histories, something which puts an extra strain on ensuring the quality of the results.
Potential solutions to challenges in the rare diseases’ space
- Regulatory pathways, such as the EMA’s Orphan Designation, enable pharmaceutical companies to have a period of exclusivity and help the industry overcome the huge economical challenges that come along with drug development
- Certain regulatory adjustments enable more drug approvals. Regulators are now taking into consideration the unique nature of these diseases and the fact there are no existing treatment options or alternative drugs for a large percentage of affected patients
- Drug-repurposing is also a solution. The use of an already approved medication for the treatment of a rare disease could be a much cheaper option for companies, vs. bearing the cost of creating a completely new therapeutic modality
- Companies should aim to create flexible clinical trial designs and as simplified and attractive for patients as possible, in order to facilitate an easier enrollment. At the same time though, these should be designs that would enable companies to gather sufficient data and robust evidence on the drug’s efficacy and safety
- Pharmaceutical companies can bypass the regional regulatory obstacles, by applying a more patient-centric approach to their clinical trial design. Using real-world data from electronic health records, mobile applications, wearables, and digital devices, and collaborating with healthcare professionals, could enable them to overcome problems related to low patient recruitment
- Companies should also seek to collaborate with clinical outcome assessment experts to ensure the quality of patient data, provided by clinicians, observers, or patients. These experts will provide the knowledge that is needed in order to help the companies use the most appropriate data in their drug development process
- Increased interaction and collaboration among pharmaceutical companies, patient organizations, regulators, and clinicians in order to raise disease awareness and help the industry overcome its problems
What the future holds
Science evolves rapidly, with more and more targeted therapies under development, covering a wide range of genetic rare diseases; many of these treatments will soon appear on the market. By 2024, the rare disease market is predicted to take more than 18% of prescription sales.
As disease awareness is also growing, more patients are going to be diagnosed, broadening the eligible patient population for these treatments. Despite the aforementioned important challenges, it seems that pharma still sees opportunities in the rare disease space, and luckily for patients, keeps pursuing them rather enthusiastically.
#rarediseases #rarediseasechallenge #orphandiseases #rarediseaseawareness
Sources
https://www.nature.com/articles/s41436-019-0616-9
https://www.abpi.org.uk/new-medicines/rare-diseases-facing-the-three-challenges/#c0c7ec25
https://pharmaphorum.com/r-d/views-analysis-r-d/biggest-challenges-rare-disease/
https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview
http://www.pharmatimes.com/web_exclusives/The_rare_disease_challenge_1323505