Manchester researchers recruit first two patients globally to a rare genetic disease registry

A global study led by Professor Zulf Mughal, Chief Investigator and researchers from the Royal Manchester Children’s Hospital (RMCH) based at Manchester University NHS Foundation Trust (MFT) are the first to recruit two patients to a global registry to establish a database of people living with a rare genetic disorder called X-Linked Hypophosphatemia (XLH)

XLH is a rare disease in which a child’s bones do not grow and develop normally. It is linked to the X chromosome and caused by a change (mutation) in the gene PHEX. The condition affects 1 in 20,000 people and generally runs in the family, but can also present itself in people with no family history of XLH.

A child with XLH may develop knock-knees or bowing of the legs as a result of a condition called rickets.  In adults, the bone disease is called osteomalacia known as, soft bones. In this condition kidneys loose phosphate in the urine and fails to generate active-Vitamin D; this reduces Calcium and Phosphorus absorption from gut thereby affecting bone formation.

This global study, sponsored by Kyowa Kirin International plc and supported by the National Institute for Health Research Clinical Research Network, aims to establish a worldwide central database of people diagnosed with XLH.

The registry will store detailed information on patients clinical data, provided on a voluntary basis (e.g. age of diagnosis, symptoms, treatment history etc.) to help advance global understanding and development of clinical research into this rare disease.

Dr Raja Padidela, Principal Investigator at RMCH says:

It’s fantastic that we have been able to recruit the first two global patients to this study. Registries are an important way of capturing first-hand information about people with certain conditions and the data we collect worldwide on XLH will go a long way in helping increase our understanding and development of treatment for people living with XLH.