Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia

Completed

• Conditions: Hypophosphatasia

• Registration Number: NCT03418389
• Lead Sponsor: Dr. Lothar Seefried

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2018-01-18
• Study First Submitted QC: 2018-01-31
• Study First Posted: 2018-02-01
• Study Start: 2018-09-05
• Primary Completion: 2021-05-31
• Study Completion: 2021-05-31
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-11
• Last Update Posted: 2022-07-12

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 23

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Physical Performance	1 year of treatment compared to pre-treatment baseline	Use of assistive devices descriptive measure
Body composition	1 year of treatment compared to pre-treatment baseline	Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]

Secondary Outcome Measures

Name	Time	Method
Health related quality of life	1 year of treatment compared to pre-treatment baseline	Questionnaire
Laboratory evaluation	1 year of treatment compared to pre-treatment baseline	Fibroblast Growth Factor 23 / FGF-23 \[RU/ml\]
Safety assessment	1 year of treatment compared to pre-treatment baseline	Adverse events (descriptive)
Bone Mineral Density	1 year of treatment compared to pre-treatment baseline	Dual x-ray absorptiometry (DXA)
Skeletal pathology	1 year of treatment compared to pre-treatment baseline	Descriptive assessment of available imaging (x-Ray, CT, MRI, histological sections)

Trial Locations

Locations (1)

Clinical Trial Unit, Orthopedic Department, Wuerzburg University; 🇩🇪 Würzburg, Germany