Clinical trial NCT03418389: Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia
Official title: An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hypophosphatasia
Lead sponsor: Wuerzburg University Hospital
Sponsor class: OTHER
Collaborators: name: Alexion Pharmaceuticals, Inc.
First posted: 2018-02-01
Enrollment: 23
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Study population consists of male and female HPP patients with pediatric-onset HPP currently being managed for the disease at the Orthopedic Institute of the Julius-Maximilians-University Würzburg, Germany and receiving commercial AA treatment as per the standard of care.

Brief summary: Hypophosphatasia is a rare inherited metabolic disorder due to inactivating mutations of the ALPL-Gene. Particularly among adult patients, clinical manifestation exhibits a broad range of signs and symptoms, most commonly associated with musculoskeletal disabilities and compromised quality of life. Enzyme replacement therapy with Asfotase alfa (AA) is available and approved for patients with pediatric onset of the disease.

This single-center observational cohort study aims at collecting clinical routine data regarding the course treatment, quality of life and physical performance in patients treated with Asfotase alfa in line with the label for pediatric-onset hypophosphatasia.


Eligibility criteria: Inclusion Criteria:

* Age ≥ 18 years at the time of enrollment
* Clinical diagnosis of pediatric-onset HPP based on low ALP (age- and sex-adjusted) and/or genetic confirmation of ALPL mutation(s), and clinical symptoms consistent with HPP
* Participant currently receiving commercial asfotase alfa treatment for HPP at the Orthopedic Institute of the Julius-Maximilians-University Würzburg, as per standard of care
* Willingness to participate in the study
* Signed informed consent

Exclusion Criteria:

* Unwillingness / anticipated inability to attend further visits
* Off-label treatment with asfotase alfa
* Current participation in an Alexion Sponsored Trial
* Experimental drug/treatment

Primary outcomes:
measure: Physical Performance
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Physical Performance
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Physical Performance
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Physical Performance
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Physical Performance
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Physical Performance
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Body composition
timeFrame: 1 year of treatment compared to pre-treatment baseline
Secondary outcomes:
measure: Health related quality of life
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Bone Mineral Density
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Skeletal pathology
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Laboratory evaluation
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Laboratory evaluation
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Laboratory evaluation
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Laboratory evaluation
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Laboratory evaluation
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Safety assessment
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Safety assessment
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Safety assessment
timeFrame: 1 year of treatment compared to pre-treatment baseline
measure: Safety assessment
timeFrame: 1 year of treatment compared to pre-treatment baseline
Other outcomes:
Locations:
city: Würzburg
country: Germany
facility: Clinical Trial Unit, Orthopedic Department, Wuerzburg University
Study officials:
affiliation: Wuerzburg University, Orthopedic Institute, Clinical Trial Unit
name: Lothar Seefried, MD
role: PRINCIPAL_INVESTIGATOR
References: