Ignite Creation Date:
2025-12-25 @ 4:25 AM
Ignite Modification Date:
2026-02-28 @ 10:14 PM
Study NCT ID:
NCT02306720
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2025-12-18
First Post:
2014-11-26
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Registry of Patients With Hypophosphatasia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Ireland', 'Portugal', 'Russia']}, 'conditionBrowseModule': {'meshes': [{'id': 'D007014', 'term': 'Hypophosphatasia'}], 'ancestors': [{'id': 'D008664', 'term': 'Metal Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1571}, 'targetDuration': '5 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2015-01-20', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2031-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-10', 'studyFirstSubmitDate': '2014-11-26', 'studyFirstSubmitQcDate': '2014-12-01', 'lastUpdatePostDateStruct': {'date': '2025-12-18', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2014-12-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2031-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Natural History Information', 'timeFrame': '1 Year', 'description': '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.'}, {'measure': 'Burden of Disease/Patient-reported Outcomes', 'timeFrame': '1 year', 'description': '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)'}, {'measure': 'Characterize the epidemiology of the HPP population.', 'timeFrame': '1 year', 'description': '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.'}, {'measure': 'Long-Term Safety and Effectiveness of Asfotase Alfa', 'timeFrame': '1 year', 'description': 'To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa.'}]}, 'conditionsModule': {'conditions': ['Hypophosphatasia (HPP)']}, 'referencesModule': {'references': [{'pmid': '35854311', 'type': 'BACKGROUND', 'citation': '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': '37051203', 'type': 'BACKGROUND', 'citation': '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': '36917043', 'type': 'BACKGROUND', 'citation': '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': '30764793', 'type': 'BACKGROUND', 'citation': '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': '38459585', 'type': 'BACKGROUND', 'citation': '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': '37442110', 'type': 'BACKGROUND', 'citation': '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': '32654183', 'type': 'BACKGROUND', 'citation': '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': '38884565', 'type': 'BACKGROUND', 'citation': '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': '39965917', 'type': 'BACKGROUND', 'citation': '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': '40714462', 'type': 'BACKGROUND', 'citation': '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': '41286962', 'type': 'BACKGROUND', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.\n\nEvaluation of safety and effectiveness data in patients with HPP who have/are receiving treatment with Asfotase alfa'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with Hypophosphatasia (HPP)', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Male and female participants, of any age, with a confirmed diagnosis of HPP.\n* Participant must have documented alkaline phosphatase (ALP) activity below the lower limit of normal for age and sex, or a documented ALPL gene mutation.\n* Participant or legal representative is able to read and/or understand the informed consent and study questionnaires in the local language.\n* 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.\n\nExclusion Criteria:\n\n* Currently participating in an Alexion-sponsored clinical trial. Enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial."}, 'identificationModule': {'nctId': 'NCT02306720', 'briefTitle': 'Registry of Patients With Hypophosphatasia', 'organization': {'class': 'INDUSTRY', 'fullName': 'Alexion Pharmaceuticals, Inc.'}, 'officialTitle': 'An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)', 'orgStudyIdInfo': {'id': 'ALX-HPP-501'}}, 'contactsLocationsModule': {'locations': [{'zip': '80112', 'city': 'Centennial', 'state': 'Colorado', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 39.57916, 'lon': -104.87692}}, {'zip': '06106', 'city': 'Hartford', 'state': 'Connecticut', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 41.76371, 'lon': -72.68509}}, {'zip': '33606', 'city': 'Tampa', 'state': 'Florida', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 27.94752, 'lon': -82.45843}}, {'zip': '30033', 'city': 'Decatur', 'state': 'Georgia', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 33.77483, 'lon': -84.29631}}, {'zip': '21287', 'city': 'Baltimore', 'state': 'Maryland', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}, {'zip': '02111', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '55454', 'city': 'Minneapolis', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 44.97997, 'lon': -93.26384}}, {'zip': '64108', 'city': 'Kansas City', 'state': 'Missouri', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 39.09973, 'lon': -94.57857}}, {'zip': '63110', 'city': 'St Louis', 'state': 'Missouri', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 38.62727, 'lon': -90.19789}}, {'zip': '07601', 'city': 'Hackensack', 'state': 'New Jersey', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 40.88593, 'lon': -74.04347}}, {'zip': '11501', 'city': 'Mineola', 'state': 'New York', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 40.74927, 'lon': -73.64068}}, {'zip': '27710', 'city': 'Durham', 'state': 'North Carolina', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 35.99403, 'lon': -78.89862}}, {'zip': '45229', 'city': 'Cincinnati', 'state': 'Ohio', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 39.12711, 'lon': -84.51439}}, {'zip': '43205', 'city': 'Columbus', 'state': 'Ohio', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 39.96118, 'lon': -82.99879}}, {'zip': '15224', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}, {'zip': '37212', 'city': 'Nashville', 'state': 'Tennessee', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 36.16589, 'lon': -86.78444}}, {'zip': '84112', 'city': 'Salt Lake City', 'state': 'Utah', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}, {'zip': '22903', 'city': 'Charlottesville', 'state': 'Virginia', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 38.02931, 'lon': -78.47668}}, {'zip': '53792', 'city': 'Madison', 'state': 'Wisconsin', 'country': 'United States', 'facility': 'Research Site', 'geoPoint': {'lat': 43.07305, 'lon': -89.40123}}, {'city': 'Clayton', 'state': 'Victoria', 'country': 'Australia', 'facility': 'Research Site', 'geoPoint': {'lat': -37.91667, 'lon': 145.11667}}, {'city': 'Parkville', 'state': 'Victoria', 'country': 'Australia', 'facility': 'Research Site', 'geoPoint': {'lat': -37.78333, 'lon': 144.95}}, {'city': 'Herston', 'country': 'Australia', 'facility': 'Research Site', 'geoPoint': {'lat': -27.44453, 'lon': 153.01852}}, {'city': 'South Brisbane', 'country': 'Australia', 'facility': 'Research Site', 'geoPoint': {'lat': -27.48034, 'lon': 153.02049}}, {'city': 'Linz', 'country': 'Austria', 'facility': 'Research Site', 'geoPoint': {'lat': 48.30639, 'lon': 14.28611}}, {'city': 'Winnipeg', 'state': 'Manitoba', 'country': 'Canada', 'facility': 'Research Site', 'geoPoint': {'lat': 49.8844, 'lon': -97.14704}}, {'city': 'Oakville', 'state': 'Ontario', 'country': 'Canada', 'facility': 'Research Site', 'geoPoint': {'lat': 43.45011, 'lon': -79.68292}}, {'city': 'Ottawa', 'state': 'Ontario', 'country': 'Canada', 'facility': 'Research Site', 'geoPoint': {'lat': 45.41117, 'lon': -75.69812}}, {'zip': 'M5G 2C4', 'city': 'Toronto', 'state': 'Ontario', 'country': 'Canada', 'facility': 'Research Site', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}, {'city': 'Toulouse', 'state': 'Haute Garonne', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}, {'city': 'Lille', 'state': 'Nord', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'city': 'Paris', 'state': 'Paris', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Poitiers', 'state': 'Vienne', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 46.58261, 'lon': 0.34348}}, {'city': 'Lyon', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'city': 'Paris', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Le Kremlin-Bicêtre', 'state': 'Île-de-France Region', 'country': 'France', 'facility': 'Research Site', 'geoPoint': {'lat': 48.81471, 'lon': 2.36073}}, {'city': 'Bad Reichenhall', 'state': 'Bavaria', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 47.72947, 'lon': 12.87819}}, {'city': 'Würzburg', 'state': 'Bavaria', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 49.79391, 'lon': 9.95121}}, {'city': 'Bochum', 'state': 'North Rhine-Westphalia', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 51.48165, 'lon': 7.21648}}, {'city': 'Düsseldorf', 'state': 'North Rhine-Westphalia', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 51.22172, 'lon': 6.77616}}, {'city': 'Dresden', 'state': 'Saxony', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 51.05089, 'lon': 13.73832}}, {'city': 'Berlin', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 52.52437, 'lon': 13.41053}}, {'city': 'Cologne', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 50.93333, 'lon': 6.95}}, {'city': 'Giessen', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 50.58727, 'lon': 8.67554}}, {'city': 'Homburg', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 49.32637, 'lon': 7.33867}}, {'city': 'Mainz', 'country': 'Germany', 'facility': 'Research Site', 'geoPoint': {'lat': 49.98185, 'lon': 8.28008}}, {'zip': '20132', 'city': 'Milan', 'state': 'Milano', 'country': 'Italy', 'facility': 'Research Site', 'geoPoint': {'lat': 45.46427, 'lon': 9.18951}}, {'city': 'Florence', 'country': 'Italy', 'facility': 'Research Site', 'geoPoint': {'lat': 43.77925, 'lon': 11.24626}}, {'city': 'Pisa', 'country': 'Italy', 'facility': 'Research Site', 'geoPoint': {'lat': 43.70853, 'lon': 10.4036}}, {'city': 'Rome', 'country': 'Italy', 'facility': 'Research Site', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'city': 'San Giovanni Rotondo', 'country': 'Italy', 'facility': 'Research Site', 'geoPoint': {'lat': 41.70643, 'lon': 15.7277}}, {'city': 'Lodz', 'country': 'Poland', 'facility': 'Research Site', 'geoPoint': {'lat': 51.77058, 'lon': 19.47395}}, {'city': 'Warsaw', 'country': 'Poland', 'facility': 'Research Site', 'geoPoint': {'lat': 52.22977, 'lon': 21.01178}}, {'city': 'Riyadh', 'country': 'Saudi Arabia', 'facility': 'Research Site', 'geoPoint': {'lat': 24.68773, 'lon': 46.72185}}, {'city': 'Madrid', 'country': 'Spain', 'facility': 'Research Site', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}, {'city': 'Bristol', 'state': 'Avon', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 51.45523, 'lon': -2.59665}}, {'city': 'London', 'state': 'Greater London', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}, {'city': 'Leicester', 'state': 'Leicestershire', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 52.6386, 'lon': -1.13169}}, {'city': 'Stanmore', 'state': 'Middlesex', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 51.61667, 'lon': -0.31667}}, {'city': 'Oxford', 'state': 'Oxfordshire', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 51.75222, 'lon': -1.25596}}, {'city': 'Sheffield', 'state': 'South Yorkshire', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 53.38297, 'lon': -1.4659}}, {'city': 'Dundee', 'state': 'Tayside Region', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 56.46913, 'lon': -2.97489}}, {'city': 'Newcastle upon Tyne', 'state': 'Tyne & Wear', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 54.97328, 'lon': -1.61396}}, {'city': 'Birmingham', 'state': 'West Midlands', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 52.48142, 'lon': -1.89983}}, {'city': 'Belfast', 'country': 'United Kingdom', 'facility': 'Research Site', 'geoPoint': {'lat': 54.59682, 'lon': -5.92541}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Alexion Pharmaceuticals, Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}