Highlights on the Rare Disease Landscape

A disease is RARE when it affects less than 1 in 2,000 people worldwide.

Over 6000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Quintessentially disabling, the patient’s quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

Few days ago the global #RareDisease community stood united with the whole world to raise awareness of rare diseases and advocate for equitable access to care for patients.

Due to its low prevalence, the medical knowledge on rarest diseases is low, and the diagnosis 'odyssey' long and challenging.

This exclusive edition of #ArarNotes highlights the regulatory challenges of rare disease drug development & explores the developments in diagnostics and treatments in that could transform the rare disease landscape. 

Rare Diseases – By Numbers

Current estimates suggest that rare diseases;

→ Affects 3.5 - 5.9 % of the world’s population

→ 70% of Rare Diseases starts in Childhood

→ 72% of the diseases are genetic

→ Almost 1 out of 5 cancers is rare

→ Once diagnosed, only 5% will have a suitable treatment

Advances in diagnostics, most notably in genomics and data analysis, and the move to more predictive, preventative, participatory, personalized and precision (5P) medicine means this will be improved significantly.

Rare Diseases bring unique challenges

For people living with a rare disease, getting the right diagnosis is key to appropriate management of their condition also it is consistently highlighted as one of the most significant challenges, involving multiple referrals, inconclusive tests and sometimes incorrect diagnoses before a final diagnosis, with some never receiving one!

It is vitally important that the voice of rare disease patients is included when developing solutions, improving understanding the causes is a crucial first step to develop appropriate diagnostics and treatments.

As advances in understanding the human genome evolve at pace, alongside the capacity to collect, share and analyze large amounts of health data, the use of AI, diagnostic will become faster and more accurate.

Regulatory Challenges across Rare Disease Drug Development

The potential of cell and gene therapies in treating rare diseases is promising yet; there’s many market access challenges to consider.

Besides the small patient population, the high costs of R&D, manufacturing and transport, limited datasets and surrogate endpoints to assess efficacy, and the fact that benefits might not be seen for many years, can be barriers to investing in cell and gene therapies. Nevertheless, the pipeline for such products has improved significantly in the past two years as the success in harnessing emerging technologies, individualized therapies and artificial intelligence (AI) is helping to drive meaningful progress for the millions of people who have a rare disease.

The biopharmaceutical industry receives incentives in the form of different exclusivities that vary in scope, length and availability. Regulatory exclusivities & patents are attractive as an innovation policy tool due to their flexibility to get sponsors on board as key partners in advancing public health. 

Accelerated paradigm getting out the white & black box of regulations should be followed considering more gray areas when developing such therapies considering risk/benefit profile in treating populations giving the highest priority to ethics especially with pediatrics as a special population.

Translating Science to Breakthrough Innovations

The pipeline for such products has improved significantly in the past years as the success in harnessing emerging technologies, individualized therapies and artificial intelligence (AI) is helping to drive meaningful progress for millions of people who have a rare disease.

Understanding and managing regulators’ and payers’ expectations with a focus on value proposition and finding innovative contracting solutions can help moving some of these therapies forward.

Tackling Rare Diseases

It can take 5 years or more to identify a rare condition, which is far too long. That’s why universities play a pivotal role to accelerate understanding, diagnosis and therapy also mapping of the rare disease research landscape, where advanced Regulatory & IP policies can lead reshaping the advancement along the road.

The above updates on what is happening in the ‘odyssey’ to detect, diagnose and treat more people with a rare disease shows that there is room for an increasing optimism that patients and their families affected by rare and devastating diseases can expect to receive better care and treatments. While there is much still to do, the scientific and technological breakthroughs will increasingly enable 5P medicine, with omics data providing a particularly important lever in relation to rare diseases.

Furthermore, that identifying targets for drug development, can be substantially accelerated with AI, and continuously investing in research to understand the causes of rare diseases, should make it possible to fast track therapeutics to address the unmet needs, and save and improve the quality of lives, of millions of people with rare diseases across the world.