Register over patienter med hypofosfatasi
2. november 2026 opdateret af: Alexion Pharmaceuticals, Inc.
En observationel, langsgående, prospektiv, langsigtet registrering af patienter med hypofosfatasi (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.
Studieoversigt
Status
Tilmelding efter invitation
Betingelser
Detaljeret beskrivelse
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
Undersøgelsestype
Observationel
Tilmelding (Anslået)
1571
Kontakter og lokationer
Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.
Studiesteder
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Herston, Australien
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South Brisbane, Australien
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Victoria
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Clayton, Victoria, Australien
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Parkville, Victoria, Australien
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Manitoba
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Winnipeg, Manitoba, Canada
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Ontario
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Oakville, Ontario, Canada
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Ottawa, Ontario, Canada
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Toronto, Ontario, Canada, M5G 2C4
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Santander, Colombia, 681003
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Belfast, Det Forenede Kongerige
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Avon
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Bristol, Avon, Det Forenede Kongerige
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Greater London
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London, Greater London, Det Forenede Kongerige
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Leicestershire
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Leicester, Leicestershire, Det Forenede Kongerige, LE1 5WW
- Leicester Royal Infirmary
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Middlesex
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Stanmore, Middlesex, Det Forenede Kongerige
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Oxfordshire
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Oxford, Oxfordshire, Det Forenede Kongerige
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South Yorkshire
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Sheffield, South Yorkshire, Det Forenede Kongerige
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Tyne & Wear
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Newcastle upon Tyne, Tyne & Wear, Det Forenede Kongerige
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West Midlands
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Birmingham, West Midlands, Det Forenede Kongerige
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Colorado
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Centennial, Colorado, Forenede Stater, 80112
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Connecticut
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Hartford, Connecticut, Forenede Stater, 06106
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Florida
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Tampa, Florida, Forenede Stater, 33606
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Georgia
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Decatur, Georgia, Forenede Stater, 30033
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Maryland
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Baltimore, Maryland, Forenede Stater, 21287
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Massachusetts
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Boston, Massachusetts, Forenede Stater, 02111
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Boston, Massachusetts, Forenede Stater, 02115
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Minnesota
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Minneapolis, Minnesota, Forenede Stater, 55454
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Missouri
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Kansas City, Missouri, Forenede Stater, 64108
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St Louis, Missouri, Forenede Stater, 63110
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New Jersey
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Hackensack, New Jersey, Forenede Stater, 07601
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New York
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Mineola, New York, Forenede Stater, 11501
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North Carolina
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Durham, North Carolina, Forenede Stater, 27710
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Ohio
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Cincinnati, Ohio, Forenede Stater, 45229
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Columbus, Ohio, Forenede Stater, 43205
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Pennsylvania
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Pittsburgh, Pennsylvania, Forenede Stater, 15224
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Tennessee
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Nashville, Tennessee, Forenede Stater, 37212
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Utah
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Salt Lake City, Utah, Forenede Stater, 84112
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Virginia
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Charlottesville, Virginia, Forenede Stater, 22903
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Wisconsin
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Madison, Wisconsin, Forenede Stater, 53792
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Lyon, Frankrig
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Paris, Frankrig
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Haute Garonne
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Toulouse, Haute Garonne, Frankrig
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Nord
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Lille, Nord, Frankrig
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Paris
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Paris, Paris, Frankrig
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Vienne
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Poitiers, Vienne, Frankrig
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Île-de-France Region
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Le Kremlin-Bicêtre, Île-de-France Region, Frankrig
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Florence, Italien
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Pisa, Italien
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Rome, Italien
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San Giovanni Rotondo, Italien
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Firenze
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Sesto Fiorentino, Firenze, Italien
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Milano
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Milan, Milano, Italien, 20132
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Chihuahua City, Mexico
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Lodz, Polen
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Warsaw, Polen
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Riyadh, Saudi Arabien
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Madrid, Spanien
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Berlin, Tyskland
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Cologne, Tyskland
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Giessen, Tyskland
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Homburg, Tyskland
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Mainz, Tyskland
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Bavaria
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Bad Reichenhall, Bavaria, Tyskland
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Würzburg, Bavaria, Tyskland
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North Rhine-Westphalia
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Bochum, North Rhine-Westphalia, Tyskland
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Düsseldorf, North Rhine-Westphalia, Tyskland
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Saxony
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Dresden, Saxony, Tyskland
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Linz, Østrig
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Deltagelseskriterier
Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.
Berettigelseskriterier
Aldre berettiget til at studere
- Barn
- Voksen
- Ældre voksen
Tager imod sunde frivillige
Ingen
Køn, der er berettiget til at studere
Alle
Prøveudtagningsmetode
Sandsynlighedsprøve
Studiebefolkning
Patients with Hypophosphatasia (HPP)
Beskrivelse
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.
Studieplan
Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Observationsmodeller: CASE_CONTROL
- Tidsperspektiver: PROSPECTIVE
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Natural History Information
Tidsramme: 1 Year
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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
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Burden of Disease/Patient-reported Outcomes
Tidsramme: 1 year
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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
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Characterize the epidemiology of the HPP population.
Tidsramme: 1 year
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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
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Long-Term Safety and Effectiveness of Asfotase Alfa
Tidsramme: 1 year
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To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa. |
1 year
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Samarbejdspartnere og efterforskere
Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.
Sponsor
Publikationer og nyttige links
Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.
Generelle publikationer
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Kishnani PS, Ing S, Hoover-Fong J, Pallais JC, Voskopoja A, Fang S, Mowrey WR, Rush E, Dahir K. Burden of disease in US patients with skeletal versus muscular or pain manifestations of hypophosphatasia: An analysis from the Global HPP Registry. Bone. 2026 Oct;211:117996. doi: 10.1016/j.bone.2026.117996. Epub 2026 Jun 28.
Datoer for undersøgelser
Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.
Studer store datoer
Studiestart (Faktiske)
20. januar 2015
Primær færdiggørelse (Anslået)
31. december 2031
Studieafslutning (Anslået)
31. december 2031
Datoer for studieregistrering
Først indsendt
26. november 2014
Først indsendt, der opfyldte QC-kriterier
1. december 2014
Først opslået (Anslået)
3. december 2014
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
4. november 2026
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
2. november 2026
Sidst verificeret
1. november 2026
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- ALX-HPP-501
Disse oplysninger blev hentet direkte fra webstedet clinicaltrials.gov uden ændringer. Hvis du har nogen anmodninger om at ændre, fjerne eller opdatere dine undersøgelsesoplysninger, bedes du kontakte register@clinicaltrials.gov. Så snart en ændring er implementeret på clinicaltrials.gov, vil denne også blive opdateret automatisk på vores hjemmeside .