New UCL study into Primary Ciliary Dyskinesia sperm analysis and fertility assessment – Participants Required

New UCL study into Primary Ciliary Dyskinesia sperm analysis and fertility assessment

Primary ciliary dyskinesia (PCD) is a respiratory condition caused by defective motility of the airway cilia. The tails of sperm are also affected in PCD meaning that adult male patients may be affected with reduced a sperm count and sperm motility defects, that reduce fertility.

Although male infertility is very much related to PCD, the level and type of infertility depends on the type of genetic make up of individual patients that is causing this condition. Although mutations in some genes cause PCD without any link to infertility, fertility problems affecting male PCD patients have been reported for 60% of identified PCD genes.

However, the effects of specific PCD mutations on male fertility still remain poorly understood. UCL Institute of Child Health have launched a new study investigating sperm defects in male PCD patients. In this project, Dr Anu Sironen from UCL is working with infertility doctors at Hammersmith hospital to identify problems with sperm motility (the ability of sperm to move efficiently) in PCD and how these relate to a patient’s gene mutations.

How will this study benefit those taking part? For male PCD patients and families interested in enrolling in this study, our analysis will inform them about their fertility status. We hope this study will improve patient and family counselling based on a patient’s genotype and the expected effect that has on fertility. Because infertility is a common feature in PCD, it is important to characterize the exact effects of specific gene mutations on sperm development, in order to advise on required treatments for conceiving when needed.

For more information contact Dr Anu Sironen at UCL or contact your doctor at your PCD clinic.

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