Rare Diseases

There are around 7000 types of rare diseases in the world[1], and new diseases are being discovered regularly. Rare diseases affect a small number of people, but there is still no consensus about the definition of rarity. In Europe, a rare disease is one that affects 1 person per 2000 while in the US it is a condition that affects fewer than 200,000 people. Although these percentages are small, there are 30 million people living with a rare disease in Europe[2], 25 to 30 million in the USA[3], and WHO estimates that 400 million people are affected worldwide[4].

Several of these conditions are considered life-threatening, and the vast majority of these diseases have few or no treatment options. Approximately 80% of rare diseases are genetic in origin. About 50% of these diseases affect children and 30% of the children affected do not live for more than 5 years.

In recent years, incentives provided by regulatory agencies have helped pharmaceutical and biotech companies develop new medicines for rare diseases.

Along with therapies for oncology, orphan drugs are one of the areas of greatest interest and growth in R&D. In 2016, 41% of new medicines approved in the USA were orphan drugs.

Last year, orphan drugs for Duchenne muscular dystrophy and for spinal muscular atrophy were approved (both antisense oligonucleotide therapies). Gene therapy for uncommon diseases is also creating a new range of possibilities. Advances like CRISPR gene editing can become powerful tools for addressing diseases with single point mutations. The paradigm may shift from treatment to cure.

Eurotrials has been closely following and contributing to this switch-over, being committed to optimizing the possibility of success in all steps of biopharmaceutical, medical device and diagnostic development.

With more than 20 years of experience in the industry, our multidisciplinary team includes medical, operational, strategy and regulatory specialists, as well as market access experts who plan and implement worldwide studies, guiding you and providing you strategic support in every step of the product lifecycle.

Long-term relationships with medical and scientific leaders and research centers in Europe and Latin America contribute to valued expert input for your projects from project design to patient engagement.

[1] Orphanet

[2] Eurordis

[3] NIH

[4] WHO