Burden of Disease in Hypophosphatasia (HPP)

November 5, 2016 updated by: Dr. Lothar Seefried, Wuerzburg University Hospital

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.

Patients will be invited to a day long visit to the clinic in order to perform the following assessments:

A) Epidemiologic / anamnestic information B) Physical examination C) Structured questionnaires D) Laboratory examinations E) Clinical functional testing F) Technical Examinations

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

114

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Germany
    • Bavaria
      • Wuerzburg, Bavaria, Germany, 97074
        • Clinical Trial Unit, Orthopaedische Klinik Koenig-Ludwig-Haus, Lehrstuhl der Universitaet Wuerzburg

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

see "Eligibility Criteria"

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Current / previous treatment with Asfotase alfa
  • Current participation in another clinical study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Frequencies of main disease symptoms and main disease manifestations
Time Frame: 2 years
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Wuerzburg University Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2014

Primary Completion (ACTUAL)

May 1, 2016

Study Completion (ACTUAL)

June 1, 2016

Study Registration Dates

First Submitted

November 11, 2014

First Submitted That Met QC Criteria

November 13, 2014

First Posted (ESTIMATE)

November 14, 2014

Study Record Updates

Last Update Posted (ESTIMATE)

November 8, 2016

Last Update Submitted That Met QC Criteria

November 5, 2016

Last Verified

November 1, 2016

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HPP-Study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Hypophosphatasia

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Slovenia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe