Enrolling by invitation NCT02306720

Registry of Patients With Hypophosphatasia

— Observational Hypophosphatasia (HPP)

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to: Registry conditions: Hypophosphatasia (HPP). Basic parameters: No limits · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: United States, Australia, Austria, Canada, France +6
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)

Overview

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

Primary outcome measures

Natural History Information [Time frame: 1 Year]
Burden of Disease/Patient-reported Outcomes [Time frame: 1 year]
Characterize the epidemiology of the HPP population. [Time frame: 1 year]
Long-Term Safety and Effectiveness of Asfotase Alfa [Time frame: 1 year]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model: Case-control

Study locations

United States · 20 centers

Research Site — Centennial
Research Site — Hartford
Research Site — Tampa
Research Site — Decatur
Research Site — Baltimore
Research Site — Boston
Research Site — Boston
Research Site — Minneapolis
… and 12 more centers

Germany · 10 centers

Research Site — Bad Reichenhall
Research Site — Würzburg
Research Site — Bochum
Research Site — Düsseldorf
Research Site — Dresden
Research Site — Berlin
Research Site — Cologne
Research Site — Giessen
… and 2 more centers

United Kingdom · 9 centers

Research Site — Bristol
Research Site — London
Leicester Royal Infirmary — Leicester
Research Site — Stanmore
Research Site — Oxford
Research Site — Sheffield
Research Site — Newcastle upon Tyne
Research Site — Birmingham
… and 1 more center

France · 7 centers

Research Site — Toulouse
Research Site — Lille
Research Site — Paris
Research Site — Poitiers
Research Site — Lyon
Research Site — Paris
Research Site — Le Kremlin-Bicêtre

Italy · 5 centers

Research Site — Milan
Research Site — Florence
Research Site — Pisa
Research Site — Rome
Research Site — San Giovanni Rotondo

Australia · 4 centers

Research Site — Clayton
Research Site — Parkville
Research Site — Herston
Research Site — South Brisbane

Canada · 4 centers

Research Site — Winnipeg
Research Site — Oakville
Research Site — Ottawa
Research Site — Toronto

Poland · 2 centers

Research Site — Lodz
Research Site — Warsaw

Austria · 1 center

Research Site — Linz

Saudi Arabia · 1 center

Research Site — Riyadh

Spain · 1 center

Research Site — Madrid

Publications

Dahir KM, Seefried L, Kishnani PS, Petryk A, Hogler W, Linglart A, Martos-Moreno GA, Ozono K, Fang S, Rockman-Greenberg C. Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry. Orphanet J Rare Dis. 2022 Jul 19;17(1):277. doi: 10.1186/s13023-022-02393-8. PMID 35854311
Dahir KM, Kishnani PS, Martos-Moreno GA, Linglart A, Petryk A, Rockman-Greenberg C, Martel SE, Ozono K, Hogler W, Seefried L. 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. Front Endocrinol (Lausanne). 2023 Mar 27;14:1138599. doi: 10.3389/fendo.2023 PMID 37051203
Hogler W, Linglart A, Petryk A, Kishnani PS, Seefried L, Fang S, Rockman-Greenberg C, Ozono K, Dahir K, Martos-Moreno GA. Growth and disease burden in children with hypophosphatasia. Endocr Connect. 2023 Apr 25;12(5):e220240. doi: 10.1530/EC-22-0240. Print 2023 May 1. PMID 36917043
Hogler W, Langman C, Gomes da Silva H, Fang S, Linglart A, Ozono K, Petryk A, Rockman-Greenberg C, Seefried L, Kishnani PS. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord. 2019 Feb 14;20(1):80. doi: 10.1186/s12891-019-2420-8. PMID 30764793
Kishnani PS, Martos-Moreno GA, Linglart A, Petryk A, Messali A, Fang S, Rockman-Greenberg C, Ozono K, Hogler W, Seefried L, Dahir KM. Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry. Orphanet J Rare Dis. 2024 Mar 8;19(1):109. doi: 10.1186/s13023-024-03048-6. PMID 38459585
Martos-Moreno GA, Rockman-Greenberg C, Ozono K, Petryk A, Kishnani PS, Dahir KM, Seefried L, Fang S, Hogler W, Linglart A. Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry. Horm Res Paediatr. 2024;97(3):233-242. doi: 10.1159/000531865. Epub 2023 Jul 13. PMID 37442110
Seefried L, Dahir K, Petryk A, Hogler W, Linglart A, Martos-Moreno GA, Ozono K, Fang S, Rockman-Greenberg C, Kishnani PS. Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry. J Bone Miner Res. 2020 Nov;35(11):2171-2178. doi: 10.1002/jbmr.4130. Epub 2020 Aug 10. PMID 32654183
Kishnani PS, Seefried L, Dahir KM, Martos-Moreno GA, Linglart A, Petryk A, Mowrey WR, Fang S, Ozono K, Hogler W, Rockman-Greenberg C. New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry. Am J Med Genet A. 2024 Nov;194(11):e63781. doi: 10.1002/ajmg.a.63781. Epub 2024 Jun 17. PMID 38884565

Identifiers

NCT: NCT02306720 · ALX-HPP-501

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗