Clinical trial NCT02306720: Registry of Patients With Hypophosphatasia
Official title: An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Hypophosphatasia (HPP)
Lead sponsor: Alexion Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2014-12-03
Enrollment: 900
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Hypophosphatasia (HPP)

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.

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

Eligibility criteria: 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.

Primary outcomes:
measure: Natural History Information
timeFrame: 1 Year
measure: Burden of Disease/Patient-reported Outcomes
timeFrame: 1 year
measure: Characterize the epidemiology of the HPP population.
timeFrame: 1 year
measure: Long-Term Safety and Effectiveness of Asfotase Alfa
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Centennial
country: United States
facility: Research Site
state: Colorado
city: Hartford
country: United States
facility: Research Site
state: Connecticut
city: Tampa
country: United States
facility: Research Site
state: Florida
city: Decatur
country: United States
facility: Research Site
state: Georgia
city: Baltimore
country: United States
facility: Research Site
state: Maryland
city: Boston
country: United States
facility: Research Site
state: Massachusetts
city: Boston
country: United States
facility: Research Site
state: Massachusetts
city: Minneapolis
country: United States
facility: Research Site
state: Minnesota
city: Kansas City
country: United States
facility: Research Site
state: Missouri
city: Saint Louis
country: United States
facility: Research Site
state: Missouri
city: Hackensack
country: United States
facility: Research Site
state: New Jersey
city: Mineola
country: United States
facility: Research Site
state: New York
city: Durham
country: United States
facility: Research Site
state: North Carolina
city: Cincinnati
country: United States
facility: Research Site
state: Ohio
city: Columbus
country: United States
facility: Research Site
state: Ohio
city: Pittsburgh
country: United States
facility: Research Site
state: Pennsylvania
city: Nashville
country: United States
facility: Research Site
state: Tennessee
city: Salt Lake City
country: United States
facility: Research Site
state: Utah
city: Charlottesville
country: United States
facility: Research Site
state: Virginia
city: Madison
country: United States
facility: Research Site
state: Wisconsin
city: Clayton
country: Australia
facility: Research Site
state: Victoria
city: Parkville
country: Australia
facility: Research Site
state: Victoria
city: Herston
country: Australia
facility: Research Site
city: South Brisbane
country: Australia
facility: Research Site
city: Linz
country: Austria
facility: Research Site
city: Winnipeg
country: Canada
facility: Research Site
state: Manitoba
city: Oakville
country: Canada
facility: Research Site
state: Ontario
city: Ottawa
country: Canada
facility: Research Site
state: Ontario
city: Toronto
country: Canada
facility: Research Site
state: Ontario
city: Toulouse cedex 9
country: France
facility: Research Site
state: Haute Garonne
city: Toulouse
country: France
facility: Research Site
state: Haute Garonne
city: Lille Cedex
country: France
facility: Research Site
state: Nord
city: Paris cedex 14
country: France
facility: Research Site
state: Paris
city: Poitiers cedex
country: France
facility: Research Site
state: Vienne
city: Lyon
country: France
facility: Research Site
city: Paris
country: France
facility: Research Site
city: Le Kremlin-Bicêtre
country: France
facility: Research Site
state: Île-de-France
city: Bad Reichenhall
country: Germany
facility: Research Site
state: Bayern
city: Wuerzburg
country: Germany
facility: Research Site
state: Bayern
city: Würzburg
country: Germany
facility: Research Site
state: Bayern
city: Bochum
country: Germany
facility: Research Site
state: Nordrhein Westfalen
city: Düsseldorf
country: Germany
facility: Research Site
state: Nordrhein Westfalen
city: Dresden
country: Germany
facility: Research Site
state: Sachsen
city: Berlin
country: Germany
facility: Research Site
city: Giessen
country: Germany
facility: Research Site
city: Homburg
country: Germany
facility: Research Site
city: Koeln
country: Germany
facility: Research Site
city: Mainz
country: Germany
facility: Research Site
city: Milan
country: Italy
facility: Research Site
state: Milano
city: Firenze
country: Italy
facility: Research Site
city: Pisa
country: Italy
facility: Research Site
city: Rome
country: Italy
facility: Research Site
city: San Giovanni Rotondo
country: Italy
facility: Research Site
city: Lodz
country: Poland
facility: Research Site
city: Warszawa
country: Poland
facility: Research Site
city: Riyadh
country: Saudi Arabia
facility: Research Site
city: Madrid
country: Spain
facility: Research Site
city: Bristol
country: United Kingdom
facility: Research Site
state: Avon
city: London
country: United Kingdom
facility: Research Site
state: Greater London
city: Leicester
country: United Kingdom
facility: Research Site
state: Leicestershire
city: Stanmore
country: United Kingdom
facility: Research Site
state: Middlesex
city: Oxford
country: United Kingdom
facility: Research Site
state: Oxfordshire
city: Sheffield
country: United Kingdom
facility: Research Site
state: South Yorkshire
city: Dundee
country: United Kingdom
facility: Research Site
state: Tayside Region
city: Newcastle upon Tyne
country: United Kingdom
facility: Research Site
state: Tyne & Wear
city: Birmingham
country: United Kingdom
facility: Research Site
state: West Midlands
city: Belfast
country: United Kingdom
facility: Research Site
Study officials:
References:
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.
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.
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.
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.
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.
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.
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.
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.
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.