Each year, Rare Disease Day is celebrated on the last day in February, a rare 28 day month that once in every four years has an even rarer day, the 29th February. This year, 2020, Rare Disease day falls on the 29th February. The main objective of today is to raise awareness amongst the general public and the policy decision makers about rare diseases and their impact on patient’s lives and their families and caregivers.
What is a Rare
Rare diseases as a
group are not that rare, 1 in 20 people will live with a rare disease
at some point in their life. In fact, there are over 300 million
people living with one of the over 6000 identified rare diseases.
That means that roughly 3.5 – 5.9% of the worldwide population are
currently affected by a rare disease. However, of this large group of
rare diseases, only 1 in 2,000 people in Europe are affected by any
one disease (in the USA a disease is defined as rare when it affects
fewer than 200,000 people at any given time).
Due to the
infrequency of their occurrence, there is often scant information and
scientific knowledge about many rare diseases, leading to delays in
diagnosis or misdiagnosis. This is further compounded by the broad
diversity of disorders, which frequently display relatively common
symptoms that can mask the underlying rare disease. Even when a
correct diagnosis is made, there are often no existing cures.
By raising awareness
of rare diseases and providing support at the local, national or
international level, you can help to advocate for better access to
treatment, diagnosis, health and social care. To find out more about
rare diseases in Europe, to find national patient organisations or to
get involved with events on Rare Disease Day 2020 visit:
Medicinal Products (ATMPs) are a potential game changer in health
care, aiming to cure chronic diseases rather than simply treat
disease symptoms. They include cell and gene therapies and tissue
engineering approaches to try to stimulate the regeneration of
health. ATMPs provide a new hope for rare disease patients,
particularly gene therapies, given that currently around 72% of rare
diseases are thought to originate from a single gene defect. Advances
in gene editing techniques, for example CRISPR/Cas9, are further
boosting research into and progress towards treatment of a whole host
of genetic diseases, including the rare disorders, sickle cell
disease and β-thalassemia, for which two patients were recently
reported (although not yet in a peer reviewed journal) as being
successfully treated by CRISPR mediated gene editing1.
However, a key issue for patients is the affordability and
accessibility of these potentially curative treatments. It is not
simply a question of reducing prices, as “Patients and caregivers
have the most to lose if innovation is stifled”2.
That said, “A treatment that is unavailable to patients who need it
has no value at all”3.
Below is an interesting review article from the patient/caregiver
perspective on the complexities of pricing and access to gene
therapies for patients with rare diseases.
aims to connect all the players, including patients, in the ATMP
development pipeline to make these advanced therapies affordable and
accessible to all those in need. Pricing is a complex and tricky
issue within the field of Advanced Therapies and is not a task that
will be easily accomplished. That is why European large scale
research initiatives such as RESTORE will be essential for navigating
the complex and multi-disciplinary field of Advanced Therapies.