Tailored treatment for PCD
In the rare lung disease PCD, the cilia in the lungs do not function properly. As a result, the lungs remain chronically inflamed. In this study, Dr Bahar Arik is developing disease models that will enable her to test future treatments for this rare, hereditary disease.
In primary ciliary dyskinesia (PCD), the tiny cilia in the body do not function properly. “These cilia clear mucus and debris from the lungs,” explains Bahar Arik, a researcher at UMC Utrecht. “When this does not happen, infections can develop and sometimes lead to serious lung damage. Children with PCD are often ill from a young age, but the disease is not always recognised immediately by doctors, even though it has a major impact on their lives.” In the Netherlands, around 2,400 people have been diagnosed with PCD. The actual number is probably higher, as not all cases are registered. Treatment can help protect the lungs, but a cure is not yet possible.
A unique disease
More than fifty genes play a role in PCD. As a result, the disease looks different in every patient. In some people, the cilia do not move at all; in others, they move uncontrollably or too quickly. Bahar Arik says: “That is why we are investigating how cilia function in so-called patient-specific in vitro models. These are laboratory-made disease models, created using cells from an individual patient. These models are important for the development of tailored gene therapy. In the future, this therapy could potentially lead to a cure.”
“We are not developing a new treatment ourselves; instead, we are creating the models in which treatments can be tested. In this way, science and industry help each other move forward.”
Cilia
The researchers collected stem cells from fifty people with PCD, all with a different genetic cause, using a nasal brush. With these cells, they investigate how the cilia behave in the disease models for each individual patient. The researchers look at three things:
- How fast the cilia move
- How the cilia respond to plastic beads that mimic pathogens
- How mini-lungs behave in a culture dish
- With this information, once a treatment becomes available, the researchers will be able to estimate for each patient what type of mutation they have and which treatment may work
Testing treatments
Pharmaceutical companies are developing treatments, but they do not always have good models in which to test them. “With our disease models, they can,” says Bahar Arik. “So we are not developing a new treatment ourselves; instead, we are creating the models in which treatments can be tested. In this way, science and industry help each other move forward. Fortunately, PCD is receiving increasing attention. As a result, the disease is being recognised more quickly by pulmonologists, and people can be treated sooner. It is wonderful that this research is contributing to that.”
Research into rare lung diseases
Longfonds and the Swierenga Foundation are committed to advancing progress in the field of rare lung diseases. These are conditions that affect fewer than 1 in 2,000 people in the Netherlands. They are often recognised late or not at all, and little funding is available for research. That is precisely why research into these diseases is important, but also challenging. The Longfonds-Swierenga Grant supports early-stage exploratory research in this field. Dr Bahar Arik received €50,000 from the Longfonds-Swierenga Grant. This will enable her to further develop her innovative ideas, potentially opening the door to important breakthroughs in the future.
Text: Judith Langeland