United States Hypophosphatasia Molecular Research Center
Sponsored by Children's Mercy Hospital Kansas City
About this trial
Last updated 2 years ago
Study ID
Status
Type
Placebo
Accepting
Trial Timing
Ended a year ago
What is this trial about?
What are the participation requirements?
Inclusion Criteria
1. Diagnosis of Hypophosphatasia based on clinical features that include
2. 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-
1. Missense variant in ALPL which is interpreted as a variant of uncertain significance by the American College of Medical Genetics Guidelines for Variant Interpretation
2. Variant has been interpreted as pathogenic, likely pathogenic, likely benign, or benign using ex-US interpretation guidelines
Exclusion Criteria
1. History and physical examination incompatible with a diagnosis of hypophosphatasia OR
2. Absence of hypophosphatasemia as measured by age and sex-matched control OR
3. Absence of at least one elevated natural substrate of alkaline phosphatase OR
4. Alternate diagnosis which could overlap with signs and symptoms of hypophosphatasia Aim 2-
1. Inability to express variant in plasmid for residual enzyme and co-transfection analyses