Registry of Patients With Hypophosphatasia

Conditions

Hypophosphatasia (HPP)

Brief summary

In this prospective, observational, long term registry patients of all ages with a diagnosis of hypophosphatasia (HPP) are followed at participating sites in multiple countries.

Detailed description

The HPP Registry is an observational, prospective, long-term registry designed to collect data on HPP epidemiology, disease history, clinical course, symptoms and burden of disease from patients of all ages who have a diagnosis of HPP. Evaluation of safety and effectiveness data in patients with HPP who have/are receiving treatment with Asfotase alfa

Tornero C, Martos-Moreno GÁ, Guañabens N, Flórez H, Ribera A, Aguado P.

2025-07-25

10.1016/j.medcli.2025.107120

Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry

Priya S. Kishnani, Lothar Seefried, Kathryn Dahir, Gabriel Ángel Martos‐Moreno, Wolfgang Högler et al. (11 authors)

Journal of Medical Genetics2025-02-185 citations

10.1136/jmg-2024-110383

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.

Kishnani PS, Martos-Moreno GÁ, Linglart A, Petryk A, Messali A, Fang S, Rockman-Greenberg C, Ozono K, Högler W, Seefried L, Dahir KM.

2024-03-0822 citations

10.1186/s13023-024-03048-6

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

Kathryn Dahir, Priya S. Kishnani, Gabriel Ángel Martos‐Moreno, Agnès Linglart, Anna Petryk et al. (10 authors)

Frontiers in Endocrinology2023-03-2724 citations

10.3389/fendo.2023.1138599

Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

Lothar Seefried, Kathryn Dahir, Anna Petryk, Wolfgang Högler, Agnès Linglart et al. (10 authors)

Journal of Bone and Mineral Research2020-07-1283 citations

10.1002/jbmr.4130

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Wolfgang Högler, Craig B. Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart et al. (10 authors)

BMC Musculoskeletal Disorders2019-02-14125 citations

10.1186/s12891-019-2420-8

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

No

Inclusion criteria

* Male and female participants, of any age, with a confirmed diagnosis of HPP. * Participant must have documented alkaline phosphatase (ALP) activity below the lower limit of normal for age and sex, or a documented ALPL gene mutation. * Participant or legal representative is able to read and/or understand the informed consent and study questionnaires in the local language. * Signed informed consent and medical records release by the patient or legal representative. Patient or patient's parent/legal representative must be willing and able to give written informed consent, and the patient must be willing to give written informed assent, if appropriate and required by local regulations.

Exclusion criteria

* Currently participating in an Alexion-sponsored clinical trial. Enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial.

Design outcomes

Primary

Measure	Time frame	Description
Natural History Information	1 Year	To collect information on the natural history of HPP from patients of all ages, including pediatric patients and adults with HPP, regardless of age at onset.
Burden of Disease/Patient-reported Outcomes	1 year	Age-appropriate PRO data will be collected using instruments to asses below: Pain, Motor Capacity, Functional Status/Disability, including Activities of Daily Living (ADL), Quality of Life (QoL)
Characterize the epidemiology of the HPP population.	1 year	To characterize the epidemiology of the HPP population. Inclusion of all classifications of HPP is planned: pediatric-onset (perinatal-, infantile-, and juvenile-onset), adult-onset, benign perinatal, and odontohypophosphatasia.
Long-Term Safety and Effectiveness of Asfotase Alfa	1 year	To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa.

Countries

Australia, Austria, Canada, Colombia, France, Germany, Italy, Poland, Saudi Arabia, Spain, United Kingdom, United States

Outcome results