HAE – a Rare Disease Being Tackled in Leeds

Clinical trials in healthy volunteers are an essential part of developing treatments for every kind of  illness. While many of our studies at Covance aim to tackle prevalent conditions like diabetes, heart disease and depression, we also work on treatments for diseases you may never have heard of – like hereditary angioedema (HAE).

HAE is a genetic condition affecting about 1 in 10,000 to 1 in 50,000 people worldwide. It can be diagnosed through a simple blood test, but the condition is so rare that the test isn’t routinely offered to people who display symptoms. It can take up to 9 years to diagnose!

This kind of swelling is typical of a HAE attack

The main symptom of HAE is rapid and extreme attacks of swelling, which comes on very quickly and can take days to subside. Attacks can affect almost any part of the body. Swelling in the face, limbs and extremities can be disfiguring and extremely uncomfortable, and patients can find it impossible to go about their daily life during this kind of an attack. Some patients also have episodes of internal abdominal swelling. This can be incredibly painful, and because the swelling occurs on the inside of the body, it is even harder to identify HAE as the cause of the problem. If a patient’s first major incidence of HAE swelling is abdominal, it is very unlikely that this illness will be diagnosed and treated correctly.

Perhaps worst of all, HAE can cause swelling of the respiratory system, which can quickly and unexpectedly close the airways and be fatal. Undiagnosed patients are in particular danger.  To an emergency responder, this kind of a flare looks a lot like an allergic reaction, and it is likely that they would administer an Epipen to reduce the swelling. Unfortunately, anti-allergy medication has no effect on the symptoms of HAE. Tragically, 20-30% of patients die before the age of 20.

As the name suggests, HAE is a genetic disorder passed down through families. Attacks can be triggered by several different factors, including stress, injuries, viruses and hormonal changes – women are more susceptible to swelling during periods and pregnancy. Of course, these factors are very difficult to avoid during day-to-day life.

Many prescription medications are known to trigger attacks, so that HAE patients cannot rely on medicines when they are experiencing other illnesses.

So what is being done to stop this awful disease?

test-tube-and-pills-HAEFortunately, there are licensed treatments on the market which can help to prevent flares and alleviate swelling once a patient has been diagnosed with HAE. However, these have unpleasant side effects for some patients, including ‘virilization’, or the development of some masculine traits in female users.

Recently, an alternative drug was developed which showed some promise of treating HAE without causing unwanted side effects. However, to be effective this drug had to be taken 3x daily on an empty stomach. This regime was deemed to be impractical for a medication which should be taken daily for life.

Covance is studying a potential new treatment for HAE which appears to be both effective and gentle, and we need your help to get this drug on the market for the people who need it most. Healthy men and women aged 18-55 who have been non-smokers for at least the last 12 months can take part and will receive from £100 per day for taking the time to be a part of this research. Apply now to help change lives.