Today is Rare Disease Day! 🎗️
In our mission to improve the global quality of life, Lifescience Dynamics is proud to be working in the rare disease space. Since our foundation in 2004, we have completed hundreds of rare disease projects and want to highlight the significance of this occasion.
By definition, a disease, disorder, or illness which affects < 200,000 is classified as a rare. While the notion of something as ‘rare’ would suggest that only a small percentage of people are impacted, currently around 30 million patients in America aloe are affected by one of 10,000 rare diseases.
Rare Disease Day is of great importance, not just because of the attention it draws to the patient community, but also for the increased awareness given to caregivers and families who are affected. We mark Rare Disease Day on February 28th, except on leap years when the date changes to February 29th – the rarest day of the year!
With ~80% of rare diseases linked to a genetic cause, there is a large unmet need for early, accurate diagnosis, and relevant treatment options. However, shifts are taking place in the industry, namely the recent approval of multiple gene therapies, which would indicate a movement toward curative therapies, rather than symptom modifiers.
Such therapies are able to leverage the accelerated approval pathway which allows for quicker access to therapies for the eligible patients. Strict policies around the results of the confirmatory trials are needed to ensure that the patients are receiving safe, effective and durable therapies.
While gene therapies hold promise for a better treatment option, the costs involved are likely to pose a significant impact on their uptake and access. The prices for the therapies vary but are often in the region of $2m - $3m which raises questions on payor policies, access and reimbursement. Beqvez, a gene therapy for hemophilia B, was priced at $3.5M per person for instance. Earlier this month, Pfizer made the decision to end the commercialisation of the therapy, since it was reported that no commercial patients had been dosed with Beqvez. The limited interest from patients and HCPs was noted to be a contributing factor in the decision for discontinuation.
Cases akin to the Beqvez discontinuation demonstrate the need for education, understanding of access implications, and market research concerns around gene therapies. Detailed awareness of the market landscape and unmet need are crucial for the future of rare diseases.
Let's shine a light on the millions affected by rare diseases worldwide as we mark the occasion and look toward a brighter future.
#RareDiseaseDay #February28th #ShareYourColours #LifescienceDynamics
