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

NCT03418389 | Completed

• 1 other identifier: KLH-01-2018
• Study Type: observational
• Target: 23
• Locations: 1 country
• Sites: 1

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.

Conditions

Hypophosphatasia

Outcome Measures

Primary Outcomes (7)

• Physical Performance

  6 Minute Walk Test \[meters\]

  1 year of treatment compared to pre-treatment baseline

• Physical Performance

  Short Physical Performance Battery \[points\]

  1 year of treatment compared to pre-treatment baseline

• Physical Performance

  Timed Up and Go Test \[seconds\]

  1 year of treatment compared to pre-treatment baseline

• Physical Performance

  Handheld dynamometry \[kilogram\]

  1 year of treatment compared to pre-treatment baseline

• Physical Performance

  Jumping mechanography \[W/kg bodyweight\]

  1 year of treatment compared to pre-treatment baseline

• Physical Performance

  Use of assistive devices descriptive measure

  1 year of treatment compared to pre-treatment baseline

• Body composition

  Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\]

  1 year of treatment compared to pre-treatment baseline

Secondary Outcomes (12)

• Health related quality of life

  1 year of treatment compared to pre-treatment baseline

• Bone Mineral Density

  1 year of treatment compared to pre-treatment baseline

• Skeletal pathology

  1 year of treatment compared to pre-treatment baseline

• Laboratory evaluation

  1 year of treatment compared to pre-treatment baseline

• Laboratory evaluation

  1 year of treatment compared to pre-treatment baseline

Study Arms (1)

Pediatric-onset Hypophosphatasia

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Dr. Lothar Seefried: lead
• Alexion Pharmaceuticals, Inc.: collaborator

Study Sites (1)

Clinical Trial Unit, Orthopedic Department, Wuerzburg University

Würzburg, 97074, Germany

Location

Related Publications (1)

• Seefried L, Genest F, Petryk A, Veith M. Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment. Bone. 2023 Oct;175:116856. doi: 10.1016/j.bone.2023.116856. Epub 2023 Jul 20.

  PMID: 37481150 DERIVED

MeSH Terms

Conditions

Hypophosphatasia

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Lothar Seefried, MD

  Wuerzburg University, Orthopedic Institute, Clinical Trial Unit

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head, Clinical Trial Unit, Orthopedic Department

Study Record Dates

• First Submitted: January 18, 2018
• First Posted: February 1, 2018
• Study Start: September 5, 2018
• Primary Completion: May 31, 2021
• Study Completion: May 31, 2021
• Last Updated: July 12, 2022

Record last verified: 2022-07

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)