Plain language summary of the first findings from the International X-Linked Hypophosphatemia (XLH) Registry

<p/> <b>What is this summary about? </b> X-linked hypophosphatemia (XLH for short) is a rare genetic condition in which people have low levels of phosphate in their blood. As XLH is rare, there is not much information available on how the disease progresses over time or the effects of different treatments on people’s outcomes. To get a better understanding of XLH, researchers set up a database called the International XLH Registry. In this analysis, researchers looked at anonymized information from people in the registry to learn more about XLH and its treatment. <b>How was the study run? </b> The International XLH Registry collects medical information on people living with XLH from Europe and Israel. People treated for XLH at specific hospitals are asked by their doctor if they would like to take part in the registry. If people living with XLH agree to take part in the study, researchers can look at the medical information to help them understand how XLH affects people living with XLH. <b>Who was in the study?</b> At the cutoff date for this analysis (29 March 2021), 579 people with XLH from 18 hospitals across 16 countries in Europe and Israel had given their consent and were included. 360 children and 217 adults were included in this study. There were 374 girls and women, and 205 boys and men in this study. <b>What were the results? </b> Compared with adults, more children received burosumab (a treatment designed to treat XLH)—around 5 in 10 children versus less than 1 in 10 adults. Genetic test results were available for around 7 out of 10 people, although more genetic test results were available for children compared with adults. Most people had a family history of XLH. It took longer for adults to receive a diagnosis of XLH (3 years and 8 months on average) compared with children (1 year on average). Adults aged 50 years and older had an average waiting time of 9 years and 5 months. People with XLH were shorter and had a higher body mass index on average than the general population. The two most common health problems related to XLH were bone and dental conditions. <b>What do the results mean? </b> This is the first analysis that researchers completed using information from the International XLH Registry. Researchers found that the signs and symptoms of XLH of the people in the registry was similar to those reported in other research studies. There were some differences between children and adults with XLH, including different signs and symptoms, treatments, and time to get a diagnosis. Researchers will continue looking at information in the registry to learn more about XLH over time. <b>How to say (double click on the icon to play sound):</b> Burosumab: bur-OH-sue-mab Chromosome: KROH-muh-some Hypophosphatemia: HY-poh-FOS-fuh-TEE-mee-uh Hypophosphatemic: HY-poh-FOS-fuh-TEE-mick Monoclonal antibody: MAH-noh-KLOH-nul AN-tee-BAH-dee Osteomalacia: OS-tee-oh-muh-LAY-shuh Phosphate: FOS-fayt Rickets: RIH-kets This is an abstract of the Plain Language Summary of Publication article. View the full Plain Language Summary PDF of this article to read the full-text Link to original article here.