Registry of Patients With Hypophosphatasia

• ClinicalTrials.gov Identifier: NCT02306720
• Recruitment Status: Enrolling by invitation
• First Posted: December 3, 2014
• Last Update Posted: April 22, 2022
• Sponsor: Alexion Pharmaceuticals
• Information provided by (Responsible Party): Alexion Pharmaceuticals

Tracking Information

• First Submitted Date: November 26, 2014
• First Posted Date: December 3, 2014
• Last Update Posted Date: April 22, 2022
• Actual Study Start Date: December 31, 2014
• Estimated Primary Completion Date: December 31, 2024 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: April 15, 2022)

• Natural History Information [ Time Frame: 1 Year ]
  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.
• Burden of Disease/Patient-reported Outcomes [ Time Frame: 1 year ]
  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)
• Characterize the epidemiology of the HPP population. [ Time Frame: 1 year ]
  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.
• Long-Term Safety and Effectiveness of Asfotase Alfa [ Time Frame: 1 year ]
  To collect and evaluate long-term safety and effectiveness data in HPP patients who have/are receiving treatment with asfotase alfa.

Original Primary Outcome Measures (submitted: December 1, 2014)

• Patient-reported Outcomes [ Time Frame: 1 year ]
  Age-appropriate PRO data will be collected using instruments to asses below: Pain
• Patient-reported Outcomes [ Time Frame: 1 year ]
  Age-appropriate PRO data will be collected using instruments to asses below: Motor Capacity
• Patient-reported Outcomes [ Time Frame: 1 year ]
  Age-appropriate PRO data will be collected using instruments to asses below: Functional Status/Disability, including Activities of Daily Living (ADL)
• Patient-reported Outcomes [ Time Frame: 1 year ]
  Age-appropriate PRO data will be collected using instruments to asses below: Quality of Life (QoL)

• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Registry of Patients With Hypophosphatasia
• Official Title: An Observational, Longitudinal, Prospective, Long-Term Registry Of 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

• Study Type: Observational [Patient Registry]
• Study Design: Observational Model: Case-Control; Time Perspective: Prospective
• Target Follow-Up Duration: 5 Years
• Biospecimen: Not Provided
• Sampling Method: Probability Sample
• Study Population: Patients with Hypophosphatasia (HPP)
• Condition: Hypophosphatasia (HPP)
• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided

Publications *

• 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.
• 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.

Recruitment Information

• Recruitment Status: Enrolling by invitation
• Estimated Enrollment (submitted: April 15, 2022): 900
• Original Estimated Enrollment (submitted: December 1, 2014): 500
• Estimated Study Completion Date: August 28, 2030
• Estimated Primary Completion Date: December 31, 2024 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

Male and female patients, of any age, with a confirmed diagnosis of HPP. Patient 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. Patient must have documented alkaline phosphatase (ALP) activity below the lower limit of normal for age and sex, or a documented ALPL gene mutation.

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.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: Australia, Canada, France, Germany, Italy, Poland, Russian Federation, Saudi Arabia, Spain, United Kingdom, United States
• Removed Location Countries: Ireland, Portugal

Administrative Information

• NCT Number: NCT02306720
• Other Study ID Numbers: ALX-HPP-501
• Has Data Monitoring Committee: Not Provided
• U.S. FDA-regulated Product: Not Provided
• IPD Sharing Statement: Not Provided
• Current Responsible Party: Alexion Pharmaceuticals
• Original Responsible Party: Same as current
• Current Study Sponsor: Alexion Pharmaceuticals
• Original Study Sponsor: Same as current
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: Alexion Pharmaceuticals
• Verification Date: April 2022