United States Hypophosphatasia Molecular Research Center
Completed
Conditions studied: Hypophosphatasia
In brief
This study is being done to determine if cryptic alterations exist within or near to the ALPL gene in patients with a clinical diagnosis of hypophosphatasia, but without identifiable alteration on commercial testing. Additionally, the study aims to characterize functional effects of certain variants of uncertain significance in patients with clinical diagnosis of hypophosphatasia.
Key facts
- Study ID
- NCT05062629
- Run by
- Children's Mercy Hospital Kansas City
- People needed
- 29
- Starts
- 2021-08-24
- Expected to finish
- 2026-02-25
- Last updated by the study team
- 2026-05-19
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Aim 1-
- Diagnosis of Hypophosphatasia based on clinical features that include
- History consistent with diagnosis of hypophosphatasia AND
- Physical examination findings consistent with a diagnosis of hypophosphatasia AND
- Presence of low serum alkaline phosphatase level for age and sex AND
- Elevation of at least one natural substrate of alkaline phosphatase
- Lack of detection of a variant on molecular analysis of the ALPL gene. When possible, first degree relatives (parents, siblings, or child) will be included for the sole purpose of trio testing. No additional information will be collected on first degree relatives.
- Aim 2-
- Missense variant in ALPL which is interpreted as a variant of uncertain significance by the American College of Medical Genetics Guidelines for Variant Interpretation
- Variant has been interpreted as pathogenic, likely pathogenic, likely benign, or benign using ex-US interpretation guidelines
You may not qualify if…
- Aim 1-
- History and physical examination incompatible with a diagnosis of hypophosphatasia OR
- Absence of hypophosphatasemia as measured by age and sex-matched control OR
- Absence of at least one elevated natural substrate of alkaline phosphatase OR
- Alternate diagnosis which could overlap with signs and symptoms of hypophosphatasia
- Aim 2-
- Inability to express variant in plasmid for residual enzyme and co-transfection analyses
Where it is running
- Children's Mercy Hospital — Kansas City, Missouri, United States
Full record on ClinicalTrials.gov
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