We are excited to let our members know that the XLH Patient Registry and Natural History Study is coming together! A project like this is essential for providing researchers with the information they need both to ask and to answer questions about hypophosphatemic disorders.
From big picture snapshots of the XLH population of patients to more narrow questions that consider whether or not there are actual links between hypophosphatemia and other system disorders such as Chiari malformations, the Natural History Study will provide qualified researchers with instant access to the data necessary to begin their research.
In order to create a study that will be valuable to researchers, we are working with experts across the world to ensure that our questions capture the correct content and are accurately worded (no easy task!).
Dr. Yves Sabbagh (creator of the PHEX database, which contains the known genetic mutations responsible for XLH) provided insight for our genetics survey. Dr. Tom Carpenter weighed in on enthesopathy. Dr. Carolyn Macica reviewed the questions related to pregnancy and nursing.
In all, we have nine experts from four different countries providing their expertise and insight to help ensure that this project is as productive for members and their families as it can possibly be. It has been a true team effort, and we are so grateful to these doctors for donating their time and experience to this project.
The Network’s Registry and Data are part of the National Organization for Rare Disorders’(NORD) Natural History Program.We are thankful for NORD’s investment in the health and wellbeing of all rare disorder communities, including ours.