Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)
Germany16 participantsStarted 2021-06-02
Plain-language summary
Observational study to perform Whole Genome Sequencing in participants clinically suspected for HPP and negative for known pathogenic ALPL variants
Who can participate
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* Informed consent is obtained from the participant or from the parent / legal guardian
* The participant is clinically suspected for HPP
* The participant does not have pathogenic variant/s in the ALPL gene
* The participant showed low alkaline phosphatase levels (age- and sex-adjusted) on at least two occasions at least a month apart based on the local laboratory reference range
* None of these conditions are present:
* Celiac disease and
* Clofibrate therapy and
* Cleidocranial dysplasia and
* Cushing's syndrome and
* Hypothyroidism and
* Massive Blood transfusion and
* Milk-alkali syndrome and
* Multiple myeloma and
* Osteogenesis imperfecta, type II and
* Pernicious or profound anemia and
* Starvation and
* Vitamin C deficiency and
* Vitamin D intoxication and
* Zinc deficiency and
* Magnesium deficiency
What they're measuring
1
Genetic analysis (WGS) of participants clinically suspected for HPP