New treatments for primary ciliary dyskinesia

This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through the National Research Funding Call.

Primary ciliary dyskinesia (PCD) affects 1 in 10,000 children, leading to severe lung disease from birth, serious nasal and sinus disease and hearing loss in many. The surfaces inside a child’s nose, sinuses and airway are covered in millions of microscopic hairs called cilia that beat over a million times a day, clearing mucus and any disease-causing pathogens we inhale. In children with PCD, their cilia do not beat normally and cannot clear mucus. This leads to repeated infections and lung damage called bronchiectasis.

The project

Professor Chris O’Callaghan from the Great Ormond Street Institute of Child Health has discovered genes responsible for many types of PCD. Over 30% of affected children have gene faults, which block the production a molecule key for normal cilia development.

These faults are ideal targets for drugs that could allow cilia to develop properly. His team have exciting preliminary evidence that two drugs given to cells with the most severe form of PCD, where cilia are absent, restored the production of the molecule and cilia started to grow back. One of the drugs, gentamicin, is already given intravenously to treat infections in patients but is too toxic for long-term treatment. The other drug, Ataluren, only works when applied to the surface of affected cells.

To overcome these challenges, his team want to enclose the drugs in “nanocarriers”, so that they can be inhaled as an aerosol and treat the affected cells. They have recently developed a way to grow large numbers of PCD cells from patients, which they will use to study multiple combinations of drugs, on cells with different genetic mistakes causing the lack of cilia.

Fast track to practice

Because these drugs are already used to treat other conditions, if this study is successful, it will translate much faster into clinical practice. In fact, if this method can restore ciliary function, Professor O’Callaghan hopes to start clinical trials in the next few years.

Finding new treatments for primary ciliary dyskinesia (pcd) -a condition that leads to lung disease, nasal and sinus problems and hearing loss

Researcher: Prof Chris O’Callaghan
Location: ICH
Grant: £186,044.47

Help fund more ground-breaking medical research for seriously ill children and their families.