Active — Not RecruitingNot Applicable

United States Hypophosphatasia Molecular Research Center

United States66 participantsStarted 2021-08-24

Plain-language summary

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.

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Diagnosis of Hypophosphatasia based on clinical features that include
✓. 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.
✓. 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

Exclusion criteria

✕. 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

What they're measuring

Identification of cryptic alterations in the ALPL

Timeframe: 3 years

Trial details

NCT IDNCT05062629

SponsorChildren's Mercy Hospital Kansas City

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-04-30

View on ClinicalTrials.gov More Hypophosphatasia trials