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

Hypophosphatasia Clinical Trial

— EmPATHY  

Official title:

An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03418389
• Other study ID #: KLH-01-2018
• Status: Completed
• Start date: September 5, 2018
• Est. completion date: May 31, 2021

Study information

• Verified date: July 2022
• Source: Wuerzburg University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 23
• Est. completion date: May 31, 2021
• Est. primary completion date: May 31, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Hypophosphatasia

Locations

Country	Name	City	State
Germany	Clinical Trial Unit, Orthopedic Department, Wuerzburg University	Würzburg

Sponsors (2)

Lead Sponsor	Collaborator
Dr. Lothar Seefried	Alexion Pharmaceuticals

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Physical Performance	6 Minute Walk Test [meters]	1 year of treatment compared to pre-treatment baseline
Primary	Physical Performance	Short Physical Performance Battery [points]	1 year of treatment compared to pre-treatment baseline
Primary	Physical Performance	Timed Up and Go Test [seconds]	1 year of treatment compared to pre-treatment baseline
Primary	Physical Performance	Handheld dynamometry [kilogram]	1 year of treatment compared to pre-treatment baseline
Primary	Physical Performance	Jumping mechanography [W/kg bodyweight]	1 year of treatment compared to pre-treatment baseline
Primary	Physical Performance	Use of assistive devices descriptive measure	1 year of treatment compared to pre-treatment baseline
Primary	Body composition	Bioelectrical Impedance Analysis [proportional mass of muscle, water and fat in kg]	1 year of treatment compared to pre-treatment baseline
Secondary	Health related quality of life	Questionnaire	1 year of treatment compared to pre-treatment baseline
Secondary	Bone Mineral Density	Dual x-ray absorptiometry (DXA)	1 year of treatment compared to pre-treatment baseline
Secondary	Skeletal pathology	Descriptive assessment of available imaging (x-Ray, CT, MRI, histological sections)	1 year of treatment compared to pre-treatment baseline
Secondary	Laboratory evaluation	Parathyroid hormone [PTH, pg/ml]	1 year of treatment compared to pre-treatment baseline
Secondary	Laboratory evaluation	Serum-Calcium [mmol/l]	1 year of treatment compared to pre-treatment baseline
Secondary	Laboratory evaluation	Serum-Phosphorus [mmol/l]	1 year of treatment compared to pre-treatment baseline
Secondary	Laboratory evaluation	Serum-Creatinine [µmol/l], incl. calculated eGFR	1 year of treatment compared to pre-treatment baseline
Secondary	Laboratory evaluation	Fibroblast Growth Factor 23 / FGF-23 [RU/ml]	1 year of treatment compared to pre-treatment baseline
Secondary	Safety assessment	Injection site reactions (descriptive)	1 year of treatment compared to pre-treatment baseline
Secondary	Safety assessment	Injection associated reactions (descriptive)	1 year of treatment compared to pre-treatment baseline
Secondary	Safety assessment	Ectopic calcifications (descriptive)	1 year of treatment compared to pre-treatment baseline
Secondary	Safety assessment	Adverse events (descriptive)	1 year of treatment compared to pre-treatment baseline