Registry of Patients With Hypophosphatasia

NCT ID: NCT02306720

Last Updated: 2025-12-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

1571 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-01-20

Study Completion Date

2031-12-31

Brief Summary

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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

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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

Conditions

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Hypophosphatasia (HPP)

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alexion Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Research Site

Centennial, Colorado, United States

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Hartford, Connecticut, United States

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Tampa, Florida, United States

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Decatur, Georgia, United States

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Baltimore, Maryland, United States

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Boston, Massachusetts, United States

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Boston, Massachusetts, United States

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Minneapolis, Minnesota, United States

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Kansas City, Missouri, United States

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St Louis, Missouri, United States

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Hackensack, New Jersey, United States

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Mineola, New York, United States

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Durham, North Carolina, United States

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Cincinnati, Ohio, United States

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Columbus, Ohio, United States

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Pittsburgh, Pennsylvania, United States

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Nashville, Tennessee, United States

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Salt Lake City, Utah, United States

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Charlottesville, Virginia, United States

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Madison, Wisconsin, United States

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Clayton, Victoria, Australia

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Parkville, Victoria, Australia

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Herston, , Australia

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South Brisbane, , Australia

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Linz, , Austria

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Winnipeg, Manitoba, Canada

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Oakville, Ontario, Canada

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Ottawa, Ontario, Canada

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Toronto, Ontario, Canada

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Toulouse, Haute Garonne, France

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Lille, Nord, France

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Paris, Paris, France

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Poitiers, Vienne, France

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Lyon, , France

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Paris, , France

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Le Kremlin-Bicêtre, Île-de-France Region, France

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Bad Reichenhall, Bavaria, Germany

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Würzburg, Bavaria, Germany

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Bochum, North Rhine-Westphalia, Germany

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Düsseldorf, North Rhine-Westphalia, Germany

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Dresden, Saxony, Germany

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Berlin, , Germany

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Cologne, , Germany

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Giessen, , Germany

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Homburg, , Germany

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Mainz, , Germany

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Milan, Milano, Italy

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Florence, , Italy

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Pisa, , Italy

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Rome, , Italy

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San Giovanni Rotondo, , Italy

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Lodz, , Poland

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Warsaw, , Poland

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Riyadh, , Saudi Arabia

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Madrid, , Spain

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Bristol, Avon, United Kingdom

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London, Greater London, United Kingdom

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Leicester, Leicestershire, United Kingdom

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Stanmore, Middlesex, United Kingdom

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Oxford, Oxfordshire, United Kingdom

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Sheffield, South Yorkshire, United Kingdom

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Dundee, Tayside Region, United Kingdom

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Newcastle upon Tyne, Tyne & Wear, United Kingdom

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Birmingham, West Midlands, United Kingdom

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Belfast, , United Kingdom

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Countries

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Ireland Portugal Russia United States Australia Austria Canada France Germany Italy Poland Saudi Arabia Spain United Kingdom

References

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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.

Reference Type BACKGROUND
PMID: 35854311 (View on PubMed)

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.2023.1138599. eCollection 2023.

Reference Type BACKGROUND
PMID: 37051203 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 36917043 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 30764793 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 38459585 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 37442110 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 32654183 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 38884565 (View on PubMed)

Kishnani PS, Seefried L, Dahir KM, Martos-Moreno GA, Hogler W, Greenberg CR, Fang S, Petryk A, Mowrey WR, Linglart A, Ozono K. Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry. J Med Genet. 2025 Mar 20;62(4):249-257. doi: 10.1136/jmg-2024-110383.

Reference Type BACKGROUND
PMID: 39965917 (View on PubMed)

Tornero C, Martos-Moreno GA, Guanabens N, Florez H, Ribera A, Aguado P. Clinical characterization and impact of hypophosphatasia in Spain: An observational analysis of the Spanish cohort included in the Global HPP Registry. Med Clin (Barc). 2025 Nov;165(5):107120. doi: 10.1016/j.medcli.2025.107120. Epub 2025 Jul 25. English, Spanish.

Reference Type BACKGROUND
PMID: 40714462 (View on PubMed)

Kishnani PS, Seefried L, Ozono K, Martos-Moreno GA, Rockman-Greenberg C, Fowler D, Burke LK, Mowrey WR, Rush ET, Ebeling PR, Hogler W, Linglart A, Fang S, Petryk A, Dahir KM. The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data. Orphanet J Rare Dis. 2025 Nov 24. doi: 10.1186/s13023-025-04129-w. Online ahead of print.

Reference Type BACKGROUND
PMID: 41286962 (View on PubMed)

Other Identifiers

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ALX-HPP-501

Identifier Type: -

Identifier Source: org_study_id