NCT02603042

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Hypophosphatasia disease from plasma

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
3 countries

3 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 10, 2015

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 11, 2015

Completed
2.8 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

November 10, 2015

Last Update Submit

February 9, 2023

Conditions

Defective Mineralization

Keywords

Hypophosphatasia DiseaseBiomarker

Outcome Measures

Primary Outcomes (1)

  • Sequencing of the Hypophosphatasia disease related gene

    Next-Generation Sequencing (NGS) of the ALPL gene will be performed. The mutation will be confirmed by Sanger sequencing.

    4 weeks

Secondary Outcomes (1)

  • The Hypophosphatasia disease specific biomarker candidates finding

    24 months

Study Arms (1)

Observation

Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease

You may qualify if:

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 2 month
  • The patient has a diagnosis of Hypophosphatasia disease or a high-grade suspicion for Hypophosphatasia disease
  • Positive family anamnesis for Hypophosphatasia disease
  • Frequent fractures
  • Bone pain
  • Tooth loss
  • Osteopenia/Osteoporosis
  • Craniosynostosis

You may not qualify if:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 month
  • No diagnosis of Hypophosphatasia disease or no valid criteria for profound suspicion of Hypophosphatasia disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Centogene AG

Rostock, 18055, Germany

Location

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of Mass-spectrometry 7, 5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct di- agnosis of Hypophosphatasia in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Hypophosphatasia disease will be done. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

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Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 10, 2015

First Posted

November 11, 2015

Study Start

August 20, 2018

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Locations

IN(1)DE(1)SR(1)