Hypophosphatasia
Conditions
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.
Interventions
None listed
Sponsors
Alexion Pharmaceuticals, Inc.
Dr. Lothar Seefried
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Physical Performance | 1 year of treatment compared to pre-treatment baseline | 6 Minute Walk Test \[meters\] |
| Body composition | 1 year of treatment compared to pre-treatment baseline | Bioelectrical Impedance Analysis \[proportional mass of muscle, water and fat in kg\] |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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) |
| 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 | Parathyroid hormone \[PTH, pg/ml\] |
| Safety assessment | 1 year of treatment compared to pre-treatment baseline | Injection site reactions (descriptive) |
Countries
Germany
Outcome results
None listed