If you or your child received a diagnosis of X-linked hypophosphatemia (XLH), you may want to consider enrolling in the XLH Registry.
The information collected in this registry helps researchers better understand the disease and its long-term effects on the body, and also pave the way for the development of potential new treatments for the disease.
About the registry
The registry was launched in 2017 and is designed to enroll up to 1,200 adults and children with XLH. Physicians will add data, at 12-month intervals over 10 years, from their patients who agree to participate in the study .
It is an observational and non-interventional study, meaning that participants won’t receive any specific treatments as part of the study. Physicians will collect only patient data they deem necessary for the study.
Researchers will use a subset of the information in the registry as part of a post-authorization safety study for the European approval of Crysvita (burosumab).
Goals of the registry
The goal of the registry is to collect clinical information about XLH patients, including their symptoms, age of diagnosis, and disease progression.
The registry will help increase understanding of how prevalent XLH is worldwide and how the symptoms may vary across different ethnicities and countries.
The registry will be a reference for patients and families with XLH. It also will enable connections between clinicians, researchers, and patients.
Who can participate in the XLH registry?
The XLH registry is open to both male and female XLH patients of any age.
In order to participate, patients or their legal representatives must have the cognitive capacity to give informed consent to enroll.
Patients who are currently enrolled in an interventional clinical trial are not eligible. However, they still may enroll if they are part of a compassionate use program, pre-commercial program, or an investigator-initiated study. Patients who are participating in an interventional clinical trial may join the registry after the trial ends.
Information contained in the registry
There is an array of data collected by physicians as as part of their patients’ normal care. The main categories of data include:
- Demographics such as date of birth, ethnicity, and biological gender
- The patient’s treatment history
- Radiography and imaging data
- Physical examination measurements
- Vital signs such as temperature and pulse rate
- Growth measurements
- Hematology (blood) values
- Urine chemistry values
- Physiotherapy reports
- Echocardiogram (ECG) reports
- Electrocardiogram (EEG) reports
- Audiology assessment (hearing test) results
- Renal (kidney) ultrasound scan results
- Assessment test results such as the six-minute walk test (6MWT)
- Quality-of-life assessments including questionnaires
- Social history such as number of work/school days missed due to XLH
- XLH-specific medical, dental, and surgical history
- General medical history
How the registry may help patients
XLH is a rare disease and many studies are limited by the number of patients they can recruit. The low number of patients that individual centers, or even individual countries, are able to recruit might not be large enough to draw statistically significant conclusions. By compiling information from patients across the world, researchers will be able to get a better understanding of how common XLH is and how it progresses.
The information also can provide data about the long-term effects of certain treatments. This should help physicians make better choices when prescribing treatments.
The registry also will help facilitate connections between patients, physicians, and researchers about new treatment options and clinical trials.
What about privacy?
The registry protects the confidentiality of the patients’ information through a procedure that anonymizes the data (removes information linking the data to a particular patient). Only the physician at the site of enrollment will have the link to identify the patient.
You can find more information about the registry at the Yale Center for X-linked Hypophosphatemia, or by contacting the clinical trial coordinator of the study.
Last updated: Nov. 13, 2020
XLH News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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