Rare diseases affect 5% of the world's population; most of them are genetic and have no cure (1), so, on February 29th 2020, 300 million people worldwide will come together to share their stories on Rare Disease Day.
While the benefits of new technological advances such as genome sequencing are still being explored, and gene therapies have been approved since 2012, the need for research and better understanding of rare diseases and their treatments should be balanced.
This can be achieved by educating patients, their families and carers, healthcare professionals and the wider public.
The 300 million represent resilience and overcoming barriers to access specialist care for an early diagnosis and to the newly approved drugs.
It is our role as medical communications agencies to reach out to all stakeholders, bring awareness to the unmet needs of the 300 million, and work together with pharmaceutical companies, charities, patient groups,academic organisations and healthcare professionals to achieve better outcomes.
In 2019, the US FDA CDER approved 21 drugs (44% of all new drug approvals) for a variety of rare diseases (cystic fibrosis, tenosynovialgiant cell tumour, and sickle cell disease) (2).
In 2018, half of all drug approvals were for rare or orphan drugs (34) (3).
Last year also brought about the approval by the US FDA of the first gene therapy for spinal muscular atrophy in children under the age of 2 (4) and EMA’s approval of the first gene therapy for beta thalassemia (5).
This Rare Disease Day belongs to the patient groups and charities who are the driving force behind improving recruitment rates for clinical trials in very narrow population cohorts,becoming patient advocates and experts in their own right.
This year take a leap and support Rare Disease Day!
Rare is Many!
Rare is Strong!
Rare is Proud!
1. Nguengang Wakap S, et al. Eur J Hum Genet. 2019; 28(2):165-173. DOI: 10.1038/s41431-019-0508-0
2. US FDA Advancing Health Through Innovation: New DrugTherapy Approvals 2019
3. US FDA AdvancingHealth Through Innovation: New Drug Therapy Approvals 2018
4. US FDA ZolgensmaPI. May 2019
5. EMA Zynteglo. SmPC October 2019
