Hypophosphatasia (HPP)NCT02306720
Registry of Patients With Hypophosphatasia
An observational study of Hypophosphatasia (HPP), run by Alexion Pharmaceuticals, Inc. at 66 sites in 12 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hypophosphatasia (HPP)
- How many people
- 1,571 participants
- Where
- 66 sitesin 12 countries
- Study dates
- 20 Jan 2015to 31 Dec 2031
- How long will I take part?
- 5 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Hypophosphatasia (HPP)
Who may be able to join
- 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.
Who cannot join
- Currently participating in an Alexion-sponsored clinical trial. Enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial.
Trial locations and contacts
66 sites in 12 countries. Contact the study team or a site near you to ask about taking part.
66 sites in 12 countries
United States20 sites
Research Site
Baltimore, Maryland, 21287
Research Site
Boston, Massachusetts, 02111
Research Site
Boston, Massachusetts, 02115
Research Site
Centennial, Colorado, 80112
Research Site
Charlottesville, Virginia, 22903
Research Site
Cincinnati, Ohio, 45229
Research Site
Columbus, Ohio, 43205
Research Site
Decatur, Georgia, 30033
Research Site
Durham, North Carolina, 27710
Research Site
Hackensack, New Jersey, 07601
Research Site
Hartford, Connecticut, 06106
Research Site
Kansas City, Missouri, 64108
Research Site
Madison, Wisconsin, 53792
Research Site
Mineola, New York, 11501
Research Site
Minneapolis, Minnesota, 55454
Research Site
Nashville, Tennessee, 37212
Research Site
Pittsburgh, Pennsylvania, 15224
Research Site
Salt Lake City, Utah, 84112
Research Site
St Louis, Missouri, 63110
Research Site
Tampa, Florida, 33606
Germany10 sites
Research Site
Bad Reichenhall, Bavaria
Research Site
Berlin
Research Site
Bochum, North Rhine-Westphalia
Research Site
Cologne
Research Site
Dresden, Saxony
Research Site
Düsseldorf, North Rhine-Westphalia
Research Site
Giessen
Research Site
Homburg
Research Site
Mainz
Research Site
Würzburg, Bavaria
United Kingdom9 sites
Research Site
Belfast
Research Site
Birmingham, West Midlands
Research Site
Bristol, Avon
Leicester Royal Infirmary
Leicester, Leicestershire, LE1 5WW
Research Site
London, Greater London
Research Site
Newcastle upon Tyne, Tyne & Wear
Research Site
Oxford, Oxfordshire
Research Site
Sheffield, South Yorkshire
Research Site
Stanmore, Middlesex
France7 sites
Research Site
Le Kremlin-Bicêtre, Île-de-France Region
Research Site
Lille, Nord
Research Site
Lyon
Research Site
Paris, Paris
Research Site
Paris
Research Site
Poitiers, Vienne
Research Site
Toulouse, Haute Garonne
Italy6 sites
Research Site
Florence
Research Site
Milan, Milano, 20132
Research Site
Pisa
Research Site
Rome
Research Site
San Giovanni Rotondo
Study site
Sesto Fiorentino, Firenze
Australia4 sites
Research Site
Clayton, Victoria
Research Site
Herston
Research Site
Parkville, Victoria
Research Site
South Brisbane
Canada4 sites
Research Site
Oakville, Ontario
Research Site
Ottawa, Ontario
Research Site
Toronto, Ontario, M5G 2C4
Research Site
Winnipeg, Manitoba
About this study
Official title: An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)
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.
Read the 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
- Conditions
- Hypophosphatasia (HPP)
- Medical subject headings
- Hypophosphatasia
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural History Information
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.
Measured: 1 Year
Burden of Disease/Patient-reported Outcomes
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)
Measured: 1 year
Characterize the epidemiology of the HPP population.
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.
Measured: 1 year
Long-Term Safety and Effectiveness of Asfotase Alfa
To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Dec 2014 (estimated)
- Study start20 Jan 2015
- Primary completion31 Dec 2031 (estimated)
- Study completion31 Dec 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Hypophosphatasia (HPP)Studies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,571 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02306720
- Sponsor's protocol ID
- ALX-HPP-501
- Status last verified
- Sep 2026
- First submitted
- 26 Nov 2014
- Last updated
- 4 Sep 2026
- Results posted
- No
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.
PubMed 35854311Dahir 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.
PubMed 37051203Hogler 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.
PubMed 36917043Hogler 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.
PubMed 30764793Kishnani 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.
PubMed 38459585Martos-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.
PubMed 37442110Seefried 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.
PubMed 32654183Kishnani 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.
PubMed 38884565Kishnani 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.
PubMed 39965917Tornero 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.
PubMed 40714462Kishnani 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;20(1):626. doi: 10.1186/s13023-025-04129-w.
PubMed 41286962