HypophosphatasiaNCT02291497
Burden of Disease in Hypophosphatasia (HPP)
An observational study of Hypophosphatasia, run by Wuerzburg University Hospital at 1 site in Germany.
Trial summary
Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by inactivating mutations in the Alkaline Phosphatase (ALPL) gene, coding for the Tissue-nonspecific alkaline phosphatase (TNAP). Penetrance and disease severity is very heterogenous, ranging from stillbirth to adult-onset manifestations. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hypophosphatasia
- How many people
- 114 participants
- Where
- 1 siteGermany
- Study dates
- Oct 2014to Jun 2016
- 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: see "Eligibility Criteria"
Who may be able to join
- Adult males and females (age ≥ 18 years)
- Established diagnosis of Hypophosphatasia
- Reduced Serum/Plasma ALP (Alkaline phosphatase)-Activity below age and sex specific reference range of the respective test kit applied (measured at least twice with a minimum 4 week interval)
- At least one of the items below:
- Genetically secured ALPL-Mutation
- Elevated PLP (Pyridoxal 5-Phosphate) (urine or serum), above ULN (Upper level of normal)
- Symptoms of the disease
- Signed informed consent
Who cannot join
- Current / previous treatment with Asfotase alfa
- Current participation in another clinical study
Trial locations and contacts
1 site in 1 country.
Germany1 site
Clinical Trial Unit, Orthopaedische Klinik Koenig-Ludwig-Haus, Lehrstuhl der Universitaet Wuerzburg
Würzburg, Bavaria, 97074
About this study
Official title: Non-interventional, Prospective, Single-center Investigation With Exploratory Data Analysis to Delineate the Variability and Frequency of Symptoms and Disease Manifestations in Adult HPP Patients
Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by inactivating mutations in the Alkaline Phosphatase (ALPL) gene, coding for the Tissue-nonspecific alkaline phosphatase (TNAP). Penetrance and disease severity is very heterogenous, ranging from stillbirth to adult-onset manifestations. Especially the latter are again characterized by an extremely broad spectrum of symptoms. This scope of variability makes it difficult to attribute individual patients' symptoms to the disease and distinguish them from HPP independent health issues. Especially in adult HPP patients, musculoskeletal problems, including (fragility-) fractures / bone bruise, joint pain, reduced mobility, muscular weakness and pain and reduced muscular endurance appear to reflect the prevailing burden of disease, especially with respect these patients dis-abilities of daily life.
To expand current knowledge of the natural history of the disease as well as on disease specific musculoskeletal deficits in HPP, all adult patients with established Diagnosis of HPP known at the Orthopedic Institute, University of Würzburg, will be offered to participate in a single, multimodal assessment of their disease history, current symptoms and disabilities, lab evaluations and clinical and technical analysis of their musculoskeletal status and capabilities.
Read more
Patients will be invited to a day long visit to the clinic in order to perform the following assessments:
- Epidemiologic / anamnestic information B) Physical examination C) Structured questionnaires D) Laboratory examinations E) Clinical functional testing F) Technical Examinations
- Conditions
- Hypophosphatasia
- Medical subject headings
- Hypophosphatasia
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequencies of main disease symptoms and main disease manifestations
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Nov 2014 (estimated)
- Study startOct 2014
- Primary completionMay 2016
- Study completionJun 2016
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
- Time perspective
- Prospective
- Enrolment
- 114 participants (actual)
Sponsor and investigators
- Lead sponsor
- Wuerzburg University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dr. Lothar Seefried, Wuerzburg University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02291497
- Sponsor's protocol ID
- HPP-Study
- Status last verified
- Nov 2016
- First submitted
- 11 Nov 2014
- Last updated
- 8 Nov 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
Weider M, Schlagenhauf U, Seefried L. Oral health status of adult hypophosphatasia patients: A cross-sectional study. J Clin Periodontol. 2022 Dec;49(12):1253-1261. doi: 10.1111/jcpe.13718. Epub 2022 Sep 7.
PubMed 36054522
Study at a glance
From the registry record, last updated by the sponsor on 8 Nov 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-interventional, Prospective, Single-center Investigation With Exploratory Data Analysis to Delineate the Variability and Frequency of Symptoms and Disease Manifestations in Adult HPP Patients
- ClinicalTrials.gov ID
- NCT02291497
- Acronym / sponsor ID
- HPP-Study
- Conditions
- Hypophosphatasia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 114 participants (actual)
- Lead sponsor
- Wuerzburg University HospitalUniversity, hospital or other
- Study start
- Oct 2014
- Primary completion
- May 2016 (actual)
- Study completion
- Jun 2016 (actual)
- First posted
- 14 Nov 2014 (estimated)
- 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 (HPP) is a rare, inherited metabolic disease caused by inactivating mutations in the Alkaline Phosphatase (ALPL) gene, coding for the Tissue-nonspecific alkaline phosphatase (TNAP). Penetrance and disease severity is very heterogenous, ranging from stillbirth to adult-onset manifestations. Especially the latter are again characterized by an extremely broad spectrum of symptoms. This scope of variability makes it difficult to attribute individual patients' symptoms to the disease and distinguish them from HPP independent health issues. Especially in adult HPP patients, musculoskeletal problems, including (fragility-) fractures / bone bruise, joint pain, reduced mobility, muscular weakness and pain and reduced muscular endurance appear to reflect the prevailing burden of disease, especially with respect these patients dis-abilities of daily life.
To expand current knowledge of the natural history of the disease as well as on disease specific musculoskeletal deficits in HPP, all adult patients with established Diagnosis of HPP known at the Orthopedic Institute, University of Würzburg, will be offered to participate in a single, multimodal assessment of their disease history, current symptoms and disabilities, lab evaluations and clinical and technical analysis of their musculoskeletal status and capabilities.
Patients will be invited to a day long visit to the clinic in order to perform the following assessments:
- Epidemiologic / anamnestic information B) Physical examination C) Structured questionnaires D) Laboratory examinations E) Clinical functional testing F) Technical Examinations
Study design
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- see "Eligibility Criteria"
Key inclusion criteria (8 listed)
- Adult males and females (age ≥ 18 years)
- Established diagnosis of Hypophosphatasia
- Reduced Serum/Plasma ALP (Alkaline phosphatase)-Activity below age and sex specific reference range of the respective test kit applied (measured at least twice with a minimum 4 week interval)
- At least one of the items below:
- Signed informed consent
Key exclusion criteria (2 listed)
- Current / previous treatment with Asfotase alfa
- Current participation in another clinical study
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
Frequencies of main disease symptoms and main disease manifestations
Time frame: 2 years
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 8 Nov 2016.
- Derived from this study: PubMed 36054522Weider M, Schlagenhauf U, Seefried L. Oral health status of adult hypophosphatasia patients: A cross-sectional study. J Clin Periodontol. 2022 Dec;49(12):1253-1261. doi: 10.1111/jcpe.13718. Epub 2022 Sep 7.
- Individual participant dataSharing planned: Undecided
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Wuerzburg University Hospital 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 8 inclusion and 2 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 8 Nov 2016. 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?
Frequencies of main disease symptoms and main disease manifestations (time frame: 2 years). 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 NCT02291497, 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 8 Nov 2016.