Register over pasienter med hypofosfatasi
2. november 2026 oppdatert av: Alexion Pharmaceuticals, Inc.
Et observasjons-, langsgående, prospektivt, langtidsregister over pasienter 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.
Studieoversikt
Status
Påmelding etter invitasjon
Forhold
Detaljert 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
Studietype
Observasjonsmessig
Registrering (Antatt)
1571
Kontakter og plasseringer
Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.
Studiesteder
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Herston, Australia
- Research Site
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South Brisbane, Australia
- Research Site
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Victoria
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Clayton, Victoria, Australia
- Research Site
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Parkville, Victoria, Australia
- Research Site
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Manitoba
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Winnipeg, Manitoba, Canada
- Research Site
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Ontario
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Oakville, Ontario, Canada
- Research Site
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Ottawa, Ontario, Canada
- Research Site
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Toronto, Ontario, Canada, M5G 2C4
- Research Site
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Santander, Colombia, 681003
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Colorado
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Centennial, Colorado, Forente stater, 80112
- Research Site
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Connecticut
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Hartford, Connecticut, Forente stater, 06106
- Research Site
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Florida
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Tampa, Florida, Forente stater, 33606
- Research Site
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Georgia
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Decatur, Georgia, Forente stater, 30033
- Research Site
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Maryland
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Baltimore, Maryland, Forente stater, 21287
- Research Site
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Massachusetts
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Boston, Massachusetts, Forente stater, 02111
- Research Site
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Boston, Massachusetts, Forente stater, 02115
- Research Site
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Minnesota
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Minneapolis, Minnesota, Forente stater, 55454
- Research Site
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Missouri
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Kansas City, Missouri, Forente stater, 64108
- Research Site
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St Louis, Missouri, Forente stater, 63110
- Research Site
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New Jersey
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Hackensack, New Jersey, Forente stater, 07601
- Research Site
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New York
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Mineola, New York, Forente stater, 11501
- Research Site
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North Carolina
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Durham, North Carolina, Forente stater, 27710
- Research Site
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Ohio
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Cincinnati, Ohio, Forente stater, 45229
- Research Site
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Columbus, Ohio, Forente stater, 43205
- Research Site
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Pennsylvania
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Pittsburgh, Pennsylvania, Forente stater, 15224
- Research Site
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Tennessee
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Nashville, Tennessee, Forente stater, 37212
- Research Site
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Utah
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Salt Lake City, Utah, Forente stater, 84112
- Research Site
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Virginia
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Charlottesville, Virginia, Forente stater, 22903
- Research Site
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Wisconsin
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Madison, Wisconsin, Forente stater, 53792
- Research Site
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Lyon, Frankrike
- Research Site
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Paris, Frankrike
- Research Site
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Haute Garonne
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Toulouse, Haute Garonne, Frankrike
- Research Site
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Nord
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Lille, Nord, Frankrike
- Research Site
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Paris
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Paris, Paris, Frankrike
- Research Site
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Vienne
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Poitiers, Vienne, Frankrike
- Research Site
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Île-de-France Region
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Le Kremlin-Bicêtre, Île-de-France Region, Frankrike
- Research Site
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Florence, Italia
- Research Site
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Pisa, Italia
- Research Site
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Rome, Italia
- Research Site
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San Giovanni Rotondo, Italia
- Research Site
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Firenze
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Sesto Fiorentino, Firenze, Italia
- Research Site
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Milano
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Milan, Milano, Italia, 20132
- Research Site
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Chihuahua City, Mexico
- Research Site
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Lodz, Polen
- Research Site
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Warsaw, Polen
- Research Site
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Riyadh, Saudi-Arabia
- Research Site
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Madrid, Spania
- Research Site
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Belfast, Storbritannia
- Research Site
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Avon
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Bristol, Avon, Storbritannia
- Research Site
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Greater London
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London, Greater London, Storbritannia
- Research Site
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Leicestershire
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Leicester, Leicestershire, Storbritannia, LE1 5WW
- Leicester Royal Infirmary
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Middlesex
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Stanmore, Middlesex, Storbritannia
- Research Site
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Oxfordshire
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Oxford, Oxfordshire, Storbritannia
- Research Site
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South Yorkshire
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Sheffield, South Yorkshire, Storbritannia
- Research Site
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Tyne & Wear
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Newcastle upon Tyne, Tyne & Wear, Storbritannia
- Research Site
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West Midlands
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Birmingham, West Midlands, Storbritannia
- Research Site
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Berlin, Tyskland
- Research Site
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Cologne, Tyskland
- Research Site
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Giessen, Tyskland
- Research Site
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Homburg, Tyskland
- Research Site
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Mainz, Tyskland
- Research Site
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Bavaria
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Bad Reichenhall, Bavaria, Tyskland
- Research Site
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Würzburg, Bavaria, Tyskland
- Research Site
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North Rhine-Westphalia
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Bochum, North Rhine-Westphalia, Tyskland
- Research Site
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Düsseldorf, North Rhine-Westphalia, Tyskland
- Research Site
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Saxony
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Dresden, Saxony, Tyskland
- Research Site
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Linz, Østerrike
- Research Site
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Deltakelseskriterier
Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Nei
Kjønn som er kvalifisert for studier
Alle
Prøvetakingsmetode
Sannsynlighetsprøve
Studiepopulasjon
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
Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.
Hvordan er studiet utformet?
Designdetaljer
- Observasjonsmodeller: CASE_CONTROL
- Tidsperspektiver: PROSPECTIVE
Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
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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Samarbeidspartnere og etterforskere
Det er her du vil finne personer og organisasjoner som er involvert i denne studien.
Sponsor
Publikasjoner og nyttige lenker
Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.
Generelle publikasjoner
- 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.
Studierekorddatoer
Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.
Studer hoveddatoer
Studiestart (Faktiske)
20. januar 2015
Primær fullføring (Antatt)
31. desember 2031
Studiet fullført (Antatt)
31. desember 2031
Datoer for studieregistrering
Først innsendt
26. november 2014
Først innsendt som oppfylte QC-kriteriene
1. desember 2014
Først lagt ut (Antatt)
3. desember 2014
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
4. november 2026
Siste oppdatering sendt inn som oppfylte QC-kriteriene
2. november 2026
Sist bekreftet
1. november 2026
Mer informasjon
Begreper knyttet til denne studien
Ytterligere relevante MeSH-vilkår
Andre studie-ID-numre
- ALX-HPP-501
Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .