HypophosphatasiaEmPATHYNCT03418389
Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia
An observational study of Hypophosphatasia, run by Dr. Lothar Seefried at 1 site in Germany.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hypophosphatasia
- How many people
- 23 participants
- Where
- 1 siteGermany
- Study dates
- 5 Sep 2018to 31 May 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Unwillingness / anticipated inability to attend further visits
- Off-label treatment with asfotase alfa
- Current participation in an Alexion Sponsored Trial
- Experimental drug/treatment
Trial locations and contacts
1 site in 1 country.
Germany1 site
Clinical Trial Unit, Orthopedic Department, Wuerzburg University
Würzburg, 97074
About this study
Official title: An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset 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.
- Conditions
- Hypophosphatasia
- Medical subject headings
- Hypophosphatasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pediatric-onset Hypophosphatasia | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Physical Performance
6 Minute Walk Test [meters]
Measured: 1 year of treatment compared to pre-treatment baseline
Physical Performance
Short Physical Performance Battery [points]
Measured: 1 year of treatment compared to pre-treatment baseline
Physical Performance
Timed Up and Go Test [seconds]
Measured: 1 year of treatment compared to pre-treatment baseline
Physical Performance
Handheld dynamometry [kilogram]
Measured: 1 year of treatment compared to pre-treatment baseline
Physical Performance
Jumping mechanography [W/kg bodyweight]
Measured: 1 year of treatment compared to pre-treatment baseline
Physical Performance
Use of assistive devices descriptive measure
Measured: 1 year of treatment compared to pre-treatment baseline
Body composition
Bioelectrical Impedance Analysis [proportional mass of muscle, water and fat in kg]
Measured: 1 year of treatment compared to pre-treatment baseline
Secondary outcomes (12)
Health related quality of life
Questionnaire
Measured: 1 year of treatment compared to pre-treatment baseline
Bone Mineral Density
Dual x-ray absorptiometry (DXA)
Measured: 1 year of treatment compared to pre-treatment baseline
Skeletal pathology
Descriptive assessment of available imaging (x-Ray, CT, MRI, histological sections)
Measured: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Parathyroid hormone [PTH, pg/ml]
Measured: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Serum-Calcium [mmol/l]
Measured: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Serum-Phosphorus [mmol/l]
Measured: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Serum-Creatinine [µmol/l], incl. calculated eGFR
Measured: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Fibroblast Growth Factor 23 / FGF-23 [RU/ml]
Measured: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Injection site reactions (descriptive)
Measured: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Injection associated reactions (descriptive)
Measured: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Ectopic calcifications (descriptive)
Measured: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Adverse events (descriptive)
Measured: 1 year of treatment compared to pre-treatment baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Feb 2018
- Study start5 Sep 2018
- Primary completion31 May 2021
- Study completion31 May 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for HypophosphatasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 23 participants (actual)
Sponsor and investigators
- Lead sponsor
- Dr. Lothar Seefried
- Sponsor type
- University, hospital or other
- Collaborators
- Alexion Pharmaceuticals, Inc.
- Responsible party
- Sponsor-investigator, Dr. Lothar Seefried, Wuerzburg University Hospital
- Investigators
- Lothar Seefried, MD, Principal investigator, Wuerzburg University, Orthopedic Institute, Clinical Trial Unit
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03418389
- Sponsor's protocol ID
- KLH-01-2018
- Acronym
- EmPATHY
- Status last verified
- Jul 2022
- First submitted
- 18 Jan 2018
- Last updated
- 12 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 37481150
Study at a glance
From the registry record, last updated by the sponsor on 12 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia
- ClinicalTrials.gov ID
- NCT03418389
- Acronym / sponsor ID
- EmPATHY / KLH-01-2018
- Conditions
- Hypophosphatasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 23 participants (actual)
- Lead sponsor
- Dr. Lothar SeefriedUniversity, hospital or other
- Collaborators
- Alexion Pharmaceuticals, Inc.
- Study start
- 5 Sep 2018 (actual)
- Primary completion
- 31 May 2021 (actual)
- Study completion
- 31 May 2021 (actual)
- First posted
- 1 Feb 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pediatric-onset Hypophosphatasia | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (4 listed)
- Unwillingness / anticipated inability to attend further visits
- Off-label treatment with asfotase alfa
- Current participation in an Alexion Sponsored Trial
- Experimental drug/treatment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Physical Performance
Time frame: 1 year of treatment compared to pre-treatment baseline
6 Minute Walk Test [meters]
Physical Performance
Time frame: 1 year of treatment compared to pre-treatment baseline
Short Physical Performance Battery [points]
Physical Performance
Time frame: 1 year of treatment compared to pre-treatment baseline
Timed Up and Go Test [seconds]
Physical Performance
Time frame: 1 year of treatment compared to pre-treatment baseline
Handheld dynamometry [kilogram]
Physical Performance
Time frame: 1 year of treatment compared to pre-treatment baseline
Jumping mechanography [W/kg bodyweight]
Physical Performance
Time frame: 1 year of treatment compared to pre-treatment baseline
Use of assistive devices descriptive measure
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]
12 secondary outcomes
Health related quality of life
Time frame: 1 year of treatment compared to pre-treatment baseline
Bone Mineral Density
Time frame: 1 year of treatment compared to pre-treatment baseline
Skeletal pathology
Time frame: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Time frame: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Time frame: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Time frame: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Time frame: 1 year of treatment compared to pre-treatment baseline
Laboratory evaluation
Time frame: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Time frame: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Time frame: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Time frame: 1 year of treatment compared to pre-treatment baseline
Safety assessment
Time frame: 1 year of treatment compared to pre-treatment baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jul 2022.
- Derived from this study: PubMed 37481150Seefried 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.
- Individual participant dataSharing planned: No
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Hypophosphatasia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lothar Seefried, MD principal investigator
Wuerzburg University, Orthopedic Institute, Clinical Trial Unit
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypophosphatasia, run by Dr. Lothar Seefried at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Physical Performance (time frame: 1 year of treatment compared to pre-treatment baseline). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03418389, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jul 2022.