Registry of Patients With Hypophosphatasia

Hypophosphatasia (HPP) Clinical Trial

Official title:

An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT02306720
• Other study ID #: ALX-HPP-501
• Status: Enrolling by invitation
• Start date: April 2, 2017
• Est. completion date: December 31, 2031

Study information

• Verified date: May 2024
• Source: Alexion Pharmaceuticals, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 900
• Est. completion date: December 31, 2031
• Est. primary completion date: December 31, 2031
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Hypophosphatasia
• Hypophosphatasia (HPP)

Locations

Country	Name	City	State
Australia	Research Site	Clayton	Victoria
Australia	Research Site	Herston
Australia	Research Site	Parkville	Victoria
Australia	Research Site	South Brisbane
Australia	Research Site	Westmead	New South Wales
Canada	Research Site	Winnipeg	Manitoba
France	Research Site	Le Kremlin-Bicêtre	Île-de-France
France	Research Site	Lyon
France	Research Site	Paris cedex 14	Paris
France	Research Site	Toulouse	Haute Garonne
Germany	Research Site	Bad Reichenhall	Bayern
Germany	Research Site	Berlin
Germany	Research Site	Bochum	Nordrhein Westfalen
Germany	Research Site	Dresden	Sachsen
Germany	Research Site	Düsseldorf	Nordrhein Westfalen
Germany	Research Site	Giessen
Germany	Research Site	Hamburg
Germany	Research Site	Homburg
Germany	Research Site	Koeln
Germany	Research Site	Mainz
Germany	Research Site	Muenchen
Germany	Research Site	Müllheim
Germany	Research Site	Rostock
Germany	Research Site	Würzburg	Bayern
Italy	Research Site	Firenze
Italy	Research Site	Pisa
Italy	Research Site	Rome
Italy	Research Site	San Giovanni Rotondo
Italy	Research Site	Verona
Poland	Research Site	Warsaw
Russian Federation	Research Site	Moscow
Russian Federation	Research Site	Saint Petersburg
Saudi Arabia	Research Site	Riyadh
Spain	Research Site	Barcelona
Spain	Research Site	Madrid
United Kingdom	Research Site	Belfast
United Kingdom	Research Site	Birmingham
United Kingdom	Research Site	Bristol	Avon
United Kingdom	Research Site	Dundee
United Kingdom	Research Site	Leicester
United Kingdom	Research Site	London
United Kingdom	Research Site	Newcastle upon Tyne
United Kingdom	Research Site	Newport
United Kingdom	Research Site	Norwich
United Kingdom	Research Site	Oxford
United Kingdom	Research Site	Sheffield
United Kingdom	Research Site	Stanmore
United States	Research Site	Baltimore	Maryland
United States	Research Site	Boston	Massachusetts
United States	Research Site	Centennial	Colorado
United States	Research Site	Chicago	Illinois
United States	Research Site	Cincinnati	Ohio
United States	Research Site	Columbus	Ohio
United States	Research Site	Decatur	Georgia
United States	Research Site	Durham	North Carolina
United States	Research Site	Golden	Colorado
United States	Research Site	Hartford	Connecticut
United States	Research Site	Kansas City	Missouri
United States	Research Site	Little Rock	Arkansas
United States	Research Site	Madison	Wisconsin
United States	Research Site	Mineola	New York
United States	Research Site	Nashville	Tennessee
United States	Research Site	Pittsburgh	Pennsylvania
United States	Research Site	Rochester	New York
United States	Research Site	Saint Louis	Missouri
United States	Research Site	Salt Lake City	Utah
United States	Research Site	Syracuse	New York
United States	Research Site	Tampa	Florida

Sponsors (1)

Lead Sponsor	Collaborator
Alexion Pharmaceuticals, Inc.

Countries where clinical trial is conducted

United States,  Australia,  Canada,  France,  Germany,  Italy,  Poland,  Russian Federation,  Saudi Arabia,  Spain,  United Kingdom, 

References & Publications (7)

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. — View 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. — View 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. — View 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. — View 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. — View 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. 2023 Jul 13. doi: 10.1159/000531865. Online ahead of print. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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