A Prospective Sub-Study of the Global Hypophosphatasia Registry

Alexion Pharmaceuticals

Status: Enrolling

Conditions: Hypophosphatasia

Treatments: Biological: Asfotase Alfa

Study type: Observational

Funder types: Industry

Identifiers

NCT05234567

ALX-HPP-501s

Details and patient eligibility

About

In this prospective observational sub-study, participants with pediatric-onset hypophosphatasia (HPP) (perinatal/infantile- or juvenile-onset) of any age will be followed for a minimum of 5 years at sites in the United States and potentially 1 or 2 other countries.

Enrollment: 30 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

30 participants in 1 patient group

Participants with Pediatric-onset HPP

Description:

Each participant will be followed for a minimum of 5 years or, if applicable, until early withdrawal. Biochemical, clinical, imaging (if clinically indicated), and functional/quality of life outcomes relevant to HPP will be assessed.

Treatment:

Biological: Asfotase Alfa