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OpenTrials
Completed

NCT Number: NCT03418389

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

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.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Clinical Trial Unit, Orthopedic Department, Wuerzburg University

Würzburg, 97074, Germany

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Physical Performance

    Time frame: 1 year of treatment compared to pre-treatment baseline

    6 Minute Walk Test [meters]

  2. Physical Performance

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Short Physical Performance Battery [points]

  3. Physical Performance

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Timed Up and Go Test [seconds]

  4. Physical Performance

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Handheld dynamometry [kilogram]

  5. Physical Performance

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Jumping mechanography [W/kg bodyweight]

  6. Physical Performance

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Use of assistive devices descriptive measure

  7. Body composition

    Time frame: 1 year of treatment compared to pre-treatment baseline

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

Secondary outcomes

  1. Health related quality of life

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Questionnaire

  2. Bone Mineral Density

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Dual x-ray absorptiometry (DXA)

  3. Skeletal pathology

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Descriptive assessment of available imaging (x-Ray, CT, MRI, histological sections)

  4. Laboratory evaluation

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Parathyroid hormone [PTH, pg/ml]

  5. Laboratory evaluation

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Serum-Calcium [mmol/l]

  6. Laboratory evaluation

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Serum-Phosphorus [mmol/l]

  7. Laboratory evaluation

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Serum-Creatinine [µmol/l], incl. calculated eGFR

  8. Laboratory evaluation

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Fibroblast Growth Factor 23 / FGF-23 [RU/ml]

  9. Safety assessment

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Injection site reactions (descriptive)

  10. Safety assessment

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Injection associated reactions (descriptive)

  11. Safety assessment

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Ectopic calcifications (descriptive)

  12. Safety assessment

    Time frame: 1 year of treatment compared to pre-treatment baseline

    Adverse events (descriptive)

Sponsors and collaborators

Lead sponsor

Dr. Lothar Seefried

Other

Collaborators

  • Alexion Pharmaceuticals, Inc.

Registry information

Official study title

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

Acronym: EmPATHY

Important dates

Study start
2018
Primary completion
2021
Study completion
2021
First posted
Feb 1, 2018
Registry last updated
Jul 12, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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