A Prospective Sub-Study of the Global Hypophosphatasia Registry

Launched by ALEXION PHARMACEUTICALS, INC. · Feb 1, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a condition called hypophosphatasia (HPP), which affects the bones and can start in childhood. The trial is specifically looking at children and young adults who were diagnosed with HPP before they turned 18. Participants in this study will be observed for at least five years to better understand the effects of a treatment called asfotase alfa, which helps increase the levels of a specific enzyme that is important for bone health.

To be eligible for this study, participants must have a confirmed diagnosis of pediatric-onset HPP and must either already be receiving asfotase alfa treatment or be beginning treatment soon after enrolling in the study. They also need to have low levels of a certain enzyme called alkaline phosphatase and must have a specific genetic mutation related to HPP. Participants and their families will need to provide consent for the study, and they can expect regular follow-ups to monitor their health and the effectiveness of the treatment. This study is currently recruiting participants in the United States and possibly in one or two other countries.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Any age or sex with a confirmed diagnosis of pediatric-onset HPP (that is, first HPP sign or symptom presented at \< 18 years of age).
• • Currently receiving asfotase alfa treatment at Enrollment (not treatment-naïve) or the Physician has decided to resume (not treatment-naïve) or start (treatment-naïve) the participant's asfotase alfa treatment within 6 months after Enrollment.
• • Participant must have documented alkaline phosphatase (ALP) activity below the lower limit of normal for age and sex, and a documented ALPL gene mutation (Note: An exception is made for infants with clinical features of HPP plus low ALP who need to start asfotase alfa treatment right away, at the Physician's discretion, but do not yet have a genetic result. In this case, ALPL gene documentation is not required at the time of sub-study enrollment but should be documented within 6 months after Enrollment).
• • Participant or participant's parent/legally authorized representative is able to read and/or understand the informed consent and study questionnaires in the local language.
• • Participant or participant's parent/legally authorized representative must be willing and able to give signed informed consent for this sub-study, and the participant must be willing to give written informed assent, if appropriate and required by local regulations.
• Exclusion Criteria:
• • Currently participating in an Alexion-sponsored interventional clinical study. Participants who have concluded participation in an Alexion-sponsored asfotase alfa clinical study are eligible to enroll in this sub-study.