Making a difference in rare diseases: A pharma perspective

Today (28 February) is Rare Disease Day 2018, where companies, organisations, charities and governments raise awareness of rare diseases and the development of the various treatments and cures.

This year, events have been happening across 80 countries worldwide to support the overarching theme for this year — research. Research is integral in the development of treatments for conditions with rare diseases being some of the most difficult for which to develop treatments.

Not only is there a limited patient population to analyse — a rare disease is defined as one that affects fewer than one in 2,000 people — but there may also be issues in that patients may die from their condition in early life. As stated by Mike Thompson, chief executive of the Association of the British Pharmaceutical Industry (ABPI) in an article on Mediaplanet’s Health Awareness website: “A third of patients die from their rare disease before their fifth birthday.”

Despite these challenges, however, more and more companies are beginning to address the unmet needs of rare diseases. Drug development consultancy, NDA, has been supporting both pharma and biotech companies around the world with strategic regulatory guidance across a variety of diseases and has noted an increase in companies looking into rare diseases.

Johan Strömquist, CEO of NDA Group said: “At NDA we take great pride in helping companies address large unmet medical need. The need is most significant when it comes to rare diseases.”

According to global management consulting firm, McKinsey & Company to successfully launch a drug for the treatment of a rare disease companies must excel in four specific areas: The must commit to the rare disease community; identify the largest possible patient group; ensure patient access; and provide sustained support to the patients and caregivers.

There have already been major advances in gene therapy, which hit the headlines last year. The approvals of two CAR-T cell therapies from Novartis and Kite Pharma by the US Food and Drug Administration (FDA), for example.

“We have already seen huge breakthroughs in the last year alone: early clinical trials in gene therapy have given hope to haemophilia patients, scientists have found a way to supress the build-up of harmful proteins in patients suffering from Huntington’s disease and we have seen a CAR-T therapy launched to use a patient’s own immune system to fight rare types of cancer,” noted Thompson when speaking to Health awareness. “There is a lot more we collectively need to do, working as the pharmaceutical industry and the government together at a national, regional and local level to make sure UK patients have access to these breakthroughs in line with, or in advance of, their counterparts in Europe.”

Support in raising awareness of rare diseases is also being achieved further down the supply chain too by pharmaceutical wholesalers. One such example is that of Chapper healthcare, which is raising money through a Just Giving page for Moorfield’s Eye Charity in support of Rare Disease Day and to help fund vital research needed to diagnose rare eye conditions.

The company revealed that it chose to raise money specifically for eye diseases after hearing the story of two-year-old Leonard Motyl who lives with a condition called autosomal dominant retinal dystrophy, which is an inherited genetic gene mutation. Inherited gene defects account for 80% of rare diseases, many of which affect vision.

“Rare is defined as less than 5 in 10,000 people suffering from a disease, but if all rare disease patients lived together in one country, it would be the third largest in the world,” stated Jonathan Chapper, CEO of Chapper healthcare. “Advancements in research and gene technology mean our understanding of the causes of rare diseases is increasing and this is being translated into new treatments. It is a cause very close to our hearts and we are delighted to be able to support the valuable work of Moorfields Eye Charity and help families like Magdalena’s who are affected by rare eye diseases.”

With all the support across the industry and continued research into drug and therapy development, each corner turned is sure to provide those affected by rare diseases with hope.