Question: What do you study?

Helen Frost answered on 17 Jun 2017:

In the company where I work, we are studying the effects of a drug called ‘arimoclomol’ on two different rare diseases. The two diseases are both genetic, so patients start to show symptoms when they’re babies, and sadly many don’t live to become adults. The diseases are called Niemann-Pick type C and Gaucher’s disease. Both of them are caused by a mutation in a gene, and these mutations prevent cells from being able to properly break down fat molecules. The result is that two different types of fat molecules build up inside the cells, and eventually the poor cells become so swollen and blocked up that they can’t function. This can happen to all types of cells, including brain cells, so the patients have a really tough time.

Initially, when the company was first created, our scientists were studying the effects of the drug in cells which had been taken from patients with the diseases. The results were really strong – when we treated the sick cells with the drug, they recovered really well, and started to break down the fat and get rid of it. Then, we collaborated with a team of other researchers from a university to test whether the drug has the same effect in mice who have the same disease, and again the results were very positive. The mice became healthier, lived longer, and their brain cells in particular were able to reduce the built-up fat molecules.

Now we are now testing the drug in a clinical trial. That means we are giving patients the drug and monitoring them very carefully to see if the drug is working, and to see if there are any unexpected side effects. Like in all clinical trials, some patients are not receiving the drug arimoclomol: they’re getting something called a placebo, instead. This is because we need a comparison, to be able to show how much of a change arimoclomol makes, compared to the natural progression of the disease. It’s also really vital that we don’t know the identities of the patients, so that we are completely impartial and unbiased. Part of my job is to help answer questions from patients’ families, without letting my colleagues from the clinical department know what’s been said if it relates to someone’s identity (their gender, age, where they live, etc), to keep the anonymity of the patients. We haven’t finished the trial yet, so we’re still waiting to find out the results, but we all really hope that the results are positive, so that we can make the drug available to all patients suffering from these horrible diseases.