Spotlight on... cystic fibrosis

Hannah Blake interviews Dr Janet Allen

For our latest 'spotlight on' article, pharmaphorum interviews Dr Janet Allen, the Director of Research at the UK's Cystic Fibrosis Trust organisation. Dr Allen shares with us her thoughts on how pharma can better support patients with this rare genetic disease.

Back in February, EURODIS organised Rare Disease Day to raise awareness for rare diseases across the world. But, of course, awareness of rare and genetic disorders needs to be raised all year round. This month on pharmaphorum is our disease focus on respiratory disorders, so to combine the two important disease areas, we chose our latest spotlight on to look at cystic fibrosis (CF).

CF affects approximately 30,000 children and adults in the United States, nearly 10,000 in the United Kingdom and roughly 70,000 worldwide. It's listed on the National Institutes of Health's Genetic and Rare Diseases Information Center (GARD) as a rare disease is described as a condition affecting less than 200,000 globally.

There have been many advances in the research and development of treatments by pharma companies for this inherited chronic disease. In the 1950s, few patients with CF lived to go to primary school, whereas today, many CF patients are expected to live to their 40s and beyond. But there's also still a long way to go.

"Cystic fibrosis is one of the UK's most common life-threatening inherited diseases."

We speak with Dr Janet Allen from the Cystic Fibrosis Trust, which was founded in 1964 and is the UK's only national charity dedicated to all aspects of this disease. Dr Allen explains about the causes and symptoms of CF, plus she shares her views on how the pharmaceutical industry can continue to support patients.

Interview summary

HB: What is CF?

JA: Cystic fibrosis (CF) is one of the UK's most common life-threatening inherited diseases. Nearly 10,000 people in the UK have

CF. If two carriers have a child then the baby has a 1 in 4 chance of having CF. Over two million people in the UK carry the faulty gene that causes CF – around 1 in 25 of the population.

Over 95% of the UK CF population is Caucasian, but CF affects many ethnic groups. Each week, five babies are born with CF. Each week, two young lives are lost to CF.

Currently around half of the CF population will live past 41 years of age, and improvements in treatments mean a baby born today is expected to live even longer.

HB: What causes CF?

JA: It is caused by a faulty gene that controls the movement of salt and water in and out of the cells within the body. CF affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus. This makes it hard to breathe and digest food.

"...more recently the industry has been developing novel treatments that affect the functioning of the channel."

HB: What are the symptoms to look out for?

JA: People CF are born with the condition; their symptoms can vary from having a characteristic cough, digestive and bowel problems, to liver and kidney problems or a combination of all these symptoms. Often people with CF look well on the outside.

HB: What treatments are available?

JA: Treatments vary according to need, but usually they include nebulised airway clearance medication, physiotherapy, digestive enzymes, antibiotics and steroids. People with CF often succumb to severe lung infection, which results in a hospital or home IV treatment of antibiotics for two weeks or more.

HB: How can pharma better support patients with CF?

JA: By developing medications that are easy to use and have been proven to be clinically effective. For example, Mannitol dry powder formula for airway clearance, or tobramycin dry powder inhaler for treatment of pseudomonas.

Most developments in pharmaceuticals have been focused on treatments to slow the progress of the disease. However, more recently the industry has been developing novel treatments that affect the functioning of the CFTR channel. The first drug, Kalydeco, was licensed last year in Europe and specifically treats people with CF with a particular genetic mutation called G551D which is 4% of the population. We need the industry to identify other small molecule drugs that influence the CFTR function particularly for patients with the most common mutation F508Del.

Pharma also needs to continue working with the Trust and the UK CF Registry to ensure UK patients have safe access to the new treatments.

"We need the industry to identify other small molecule drugs that influence the CFTR function..."

HB: What does the future look like for CF patients?

JA: The Cystic Fibrosis Trust will be celebrating its 50th anniversary next year. Looking back, CF has changed a lot over this time. It used to be a paediatric disease with life-expectancy of 4 years. Today, there are more adults with CF than children and the median life expectancy is 41 years. This has all been achieved by improvement in the diagnosis and clinical management of people with CF through specialist clinics.

This is a very interesting time for CF research. There has been a paradigm shift, because for the first time, new approaches are being developed that can treat CFTR directly. A new research strategy is being developed by the Trust to ensure that we will be able to respond to positive research.

About the interviewee:

Dr Janet Allen is Director of Research at the Cystic Fibrosis Trust.

Dr Allen has a wealth of knowledge and expertise having started her career as a clinician, then moved into biomedical and molecular research in both academic and commercial environments. A snapshot of her positions held include: 2008 - 2011 Director of Research for Biotechnology and Biological Sciences Research Council; 2005-2008 – Director of the Conway Institute for Biomolecular and Biomedical Research, University College Dublin; 2001-2005 – Director of Discovery Biology, Inpharmatic Ltd; 1998-2001 – Director of Cell and Molecular Biology, Parke Davis Global Research & Development, Pfizer, France. She joined the Cystic Fibrosis Trust as Director of Research in September 2012.

Website: www.cysticfibrosis.org.uk

Phone number: 0300 373 1000

How can pharma better support patients with cystic fibrosis?