More medicines for rare diseases

It’s a world she knows only too well: the hospital visits, tests, ignorance, uncertainty and frustration. Wendy Olsder’s brother, who is three years younger than she is, has a genetic metabolic disease, a rare disorder for which no medicines are available. The impact on her family has been considerable. But Wendy’s attitude is ‘roll up your sleeves and get busy’.

During her primary and secondary school years, she would often get a group of friends together and task them with collecting money, fundraising for research into medicines to treat her little brother’s disorder.

And when, after completing her degree in Industrial Engineering at the University of Groningen (RUG), she heard of a doctoral research position focused on improving the availability and accessibility of medicines for rare diseases, she knew at once that this was the project for her, as she explains enthusiastically.

The wheelchair

“I’ve been interested in the processes within healthcare since I was a little kid. It’s easy to strike up a conversation with other people with a rare disease when you’re walking along behind your little brother’s wheelchair. Said the one wheelchair to the other ... Well, that’s just how it is. And, of course, there were also the get-togethers arranged by the patient associations.”

“I know from personal experience the kind of problems patients with a rare disorder encounter. Making the diagnosis is a problematic process and often, therefore, a lengthy one. Then a lack of knowledge and expertise mean they’re offered substandard care. Now I’ve got the chance to help resolve these issues at the scientific level. A fantastic chance.”

Once there’s a diagnosis, you’d expect the next step to be a drug, but that’s not always a matter of course. Some 350 million people worldwide have a rare disorder; ‘rare’ is the right term when you’re talking about fewer than 1 in 2000 people. To date, there are about 7000 known rare diseases. Medicine is available for only 500 of these disorders, Olsder explains. On her fingers she checks off the reasons why.

“Not enough is known about the disorder itself; the patient group is too small for clinical research; the sales market is too small. Investing in the development of an orphan drug – that’s a drug used to treat a rare disease – is not an attractive proposition for a pharmaceutical company. The costs are high and the market is small.

So when a new drug finally comes onto the market, the pharmaceutical company asks an exorbitant price for it. That has a big impact on our care budget. And so, together with my colleagues, I looked at whether we can change this whole system, so we can break this vicious circle.”

Unique mathematical model

So that any discussion of this complex issue could be more firmly rooted in the facts and figures, Olsder developed a mathematical model; she was somewhat amazed to find that one didn’t already exist. “We’re really taking a big step forward here, since we can use this model to demonstrate scientifically which aspects can be adapted to make the whole process more efficient.”

One of the first aspects that Olsder studied was the present way of issuing grants, and whether it should change. “To encourage pharmaceutical companies to make more orphan drugs available, they are given government grants. But because they subsequently ask very high prices for the medicines they have developed, patient access remains limited. Surprisingly enough, it’s not so much the grants themselves that are the problem.”

“We’re seeing that we need to make the price regulation our focus. There’s currently an initiative running in the Benelux in which a consortium of stakeholders has a direct influence on the price of a number of orphan drugs. Already, initial results are showing this to be a good option for keeping the cost of orphan drugs realistic.”Another important conclusion reached by Olsder’s research, is that the availability of medicines in the preparatory phase can be accelerated.

“This phase is followed, of course, by a whole approval phase. But the bureaucracy can be hastened in a number of ways. By, for example, issuing a temporary approval so that patients who would not otherwise survive have earlier access to a new medicine. Likewise, the European Medicines Agency (EMA) is keen to see drugs made available earlier to patients, and it is already running some pilot studies in which medicines reach the market via a different route. My thesis includes multiple suggestions for further improving this adaptive approval program, as it is called. It’s good to see that rare diseases are the focus of increasing interest both here in the Netherlands and at the European level.”

Wearing two hats

The fact that she’s ‘wearing two hats’ adds to her motivation. At the age of fourteen, after a lengthy process, Olsder learned that she herself has a rheumatic condition. She switched immediately to action mode. First, by organizing events for the patient association, and soon by becoming the patient representative in various rheumatology studies. As well as papers on her doctoral research, her list of publications sports a good many articles about the rheumatology research projects she’s been involved in.

“It’s one way I can really build bridges between the scientific research and the patient organizations.” Not long ago, Olsder started work as an assistant professor at the Erasmus School of Health Policy & Management, where she will be following up her doctoral research. At the same time, she took on a second role. One which means that for the time being she’ll carry on wearing her two hats; she became a trainer in ‘patient participation in scientific research’ at PGO Support, an organization offering knowledge and advice.

“Yes, having a rheumatic condition makes me tire more quickly, and I manage my limited reserves of energy by working to a very flexible schedule. Sometimes I might leave the office after only an hour. But being able to contribute something tangible to health research in this way, by coming at it from two directions, gives me a great deal of energy and satisfaction in return. And that makes all this planning more than worthwhile.”