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Through this study, researchers will be collecting data about hypophosphatasia (HPP), an ultra-rare bone disorder caused by gene mutations or changes. The condition leads to low or absent levels of the enzyme required for bone hardening. The study collects observational and standard-of-care data, but does not involve any treatment or administration of medication for HPP. Analysis of the collected information may lead to insights that will help physicians learn more about treating people with the condition.
Subject to exclusion criteria, the study is accepting patients of both genders and of all ages who have a confirmed diagnosis of HPP.
Males and Females: All ages
With consent, physicians will provide medical history information, lab results and imaging reports about their enrolled patients. Parents/guardians or participants will complete health/quality-of-life questionnaires at the start of the study, every three months during the first year, and every six months for the remainder of the study. These can be completed during routine doctor appointments or at home.
Visits: None beyond normal clinical care
Duration: At least 5 years
Study Description at National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Daniele Black, BS
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.