Putting Rare Diseases in the Spotlight

Written by Stephanie Langouet, Senior Vice President Of CRO Operations

In this interview blog, Stephanie Langouet, Cmed’s Sr Vice President of CRO Operations, shares some of the challenges of drug development and research for rare diseases in children. She hopes that by sharing and properly collaborating we can all contribute to a better future for those who suffer from a rare disease.

What is a rare disease and why should they be studied?

A rare disease is any disorder that affects a small percentage of the population. As always with rare diseases (and many others), research is never going fast enough. Clinical trials are on-going but are there enough of them? Are they targeted enough?

Although the disease may be rare, patients and families share a common struggle, confronted with a stark statistic that 30% of children with a rare disease will not live to see their 5th birthday. This number speaks for itself – diseases may be rare but their impact on the families is considerable.

More and more hospitals specialise in the research and treatment of rare diseases. Great Ormond Street Child Hospital sees a few of them at its centre for research and Birmingham is now the UK’s first rare diseases centre for children, thus making a compelling case for more patient-centred approach to care.

How can things change?

Due to the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected. In this complex research and development world, some specialists collaborate - without borders. This is crucial as with their help and commitment, we can treat our children.

Clinical trials need to be multinational so that patients can benefit from the pooling of resources. A good example is the European initiative called Single Hub and Access point for paediatric Rheumatology in Europe (SHARE). Launched in 2012, this programme seeks to optimise and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases.

How can the industry move forward?

While we can always hope for more, one must recognise that rare diseases are not ignored anymore. For example, bringing together all four health departments, the UK has published a strategy for Rare Diseases in 2013. The aim of the Strategy is to ‘ensure no one gets left behind just because they have a rare disease’. The 51 commitments in the UK Strategy have the ambition to be implemented by 2020.

However, while there has been progress in implementing some of the recommendations in England, members of the Patient Empowerment Group feel that ‘without oversight and coordination these activities are not linked well enough with other key bodies charged with implementing the Strategy, such as NHS England, NICE, Health Education England, the National Institute for Health Research and the UK Genetic Testing Network’.

Can you demonstrate specific challenges by example of a particular rare disease?

Juvenile DermatoMyositis (JDM) is an autoimmune condition which leads to inflammation of the skin and muscle. It can also affect a number of systems within the body. It can range from being mild where children may have few symptoms, to a more severe disease which can affect different organs of the body (such as the heart, lungs, brain). Its cause is unknown, and it is potentially life-threatening.

JDM is a rare disease. Depending on various sources, the annual incidence ranges from 1 to 5 cases per million population. One quarter of patients are aged 4 years or younger at diagnosis. Think about all the children you know – what are the odds of one of them ever being diagnosed with this disease?

While the standard treatment is the use of high-dose corticosteroids, immunosuppressant drugs can be associated with reducing inflammation. Intravenous immunoglobulin can be added in 2nd line. 3rd line agents can also be prescribed. Very rarely, children can become acutely and seriously ill, requiring intensive treatment which includes plasma exchange.

Unfortunately, most of the drugs used now have side effects and JDM can become a serious disease if left untreated. So serious that a child can suddenly spend many weeks in hospitals going from one test to another, watching for CPK levels going up to 80,000 U/L (the normal range varies depending on age and gender, usually ~ 30-500 U/L) and quickly ending up in Intensive Care Unit. In the process, children can be isolated to not catch infection, become confined to a bed unable to feel their legs, or to move their hands; they can be intubated and end up not being able to communicate. Sitting by their bed is heart-breaking.

The disease can last from 1.5 years and up to a lifetime. Depending upon the severity, those who have a single episode of the disease can expect a full recovery. The majority of those who have a relapsing-remitting course can also expect a full recovery in time. During the active phase of the illness the aim is to normalise as much of the child’s life as possible, to get the child back to school full-time and having fun with their friends. Most go on to have families, employment and normal lives. If left untreated, the condition leads to increased weakness of muscle, inflammation of skin, and more. This can be fatal. Diagnostic criteria in JDM are under revision, but will need further adjustment as new outcome tools, especially autoantibodies and biomarkers, are being developed.

What does the future look like for rare diseases?

JDM is only one of 5,000-8,000 rare diseases; each one affects less than 0.1% of the UK’s population, but together they affect the lives of 3 million people; 50% of them affect children. Walking the labyrinth of symptoms, tests, diagnostic, treatments and side effects can be overwhelming. Navigating hospitals’ research units, government actions and patient advocate associations takes time and patience.

In parallel to the medical corporations, multiple charitable associations and patient advocate groups are mobilised across many countries. In the UK, you can choose to be involved in many ways. Whilst some of us have the privilege of being part of ‘a world of research’, we are sometimes disappointed at how slow progress seems to be, at how much coordination is lacking across so many disciplines. We see the frustration of the patients and wish we could do more and faster. Events such as Rare Disease Day (28 February) give us the opportunity to reflect on how our research and pharmaceutical worlds work together to bring hope to the patients. Because our suffering is nothing compared to theirs.

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