Registry of Patients With Hypophosphatasia

NCT02306720 | Enrolling By Invitation

• 1 other identifier: ALX-HPP-501
• Study Type: observational
• Target: 1,571
• Locations: 10 countries
• Sites: 63

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.

Conditions

Hypophosphatasia (HPP)

Outcome Measures

Primary Outcomes (4)

• 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.

  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)

  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.

  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.

  1 year

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Hypophosphatasia (HPP)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Alexion Pharmaceuticals, Inc.: lead

Study Sites (64)

Research Site

Centennial, Colorado, 80112, United States

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Hartford, Connecticut, 06106, United States

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Tampa, Florida, 33606, United States

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Decatur, Georgia, 30033, United States

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Baltimore, Maryland, 21287, United States

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Boston, Massachusetts, 02111, United States

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Boston, Massachusetts, 02115, United States

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Minneapolis, Minnesota, 55454, United States

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Kansas City, Missouri, 64108, United States

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St Louis, Missouri, 63110, United States

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Hackensack, New Jersey, 07601, United States

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Mineola, New York, 11501, United States

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Durham, North Carolina, 27710, United States

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Cincinnati, Ohio, 45229, United States

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Columbus, Ohio, 43205, United States

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Pittsburgh, Pennsylvania, 15224, United States

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Nashville, Tennessee, 37212, United States

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Salt Lake City, Utah, 84112, United States

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Charlottesville, Virginia, 22903, United States

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Madison, Wisconsin, 53792, 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, M5G 2C4, 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, 20132, 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 Royal Infirmary

Leicester, Leicestershire, LE1 5WW, 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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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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Related Publications (11)

• 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 BACKGROUND

• 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.

  PMID: 37051203 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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.

  PMID: 39965917 BACKGROUND

• 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.

  PMID: 40714462 BACKGROUND

• 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;20(1):626. doi: 10.1186/s13023-025-04129-w.

  PMID: 41286962 BACKGROUND

MeSH Terms

Conditions

Hypophosphatasia

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 26, 2014
• First Posted: December 3, 2014
• Study Start: January 20, 2015
• Primary Completion (Estimated): December 31, 2031
• Study Completion (Estimated): December 31, 2031
• Last Updated: February 27, 2026

Record last verified: 2026-02

Locations

ES (1); DE (10); CA (4); IT (5); GB (9); US (20); AU (4); SA (1); FR (7); PL (2)