RECRUITING

United States Hypophosphatasia Molecular Research Center

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

United States Hypophosphatasia Molecular Research Center

Quick Facts

Study Start:2021-08-24

Study Completion:2026-08-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05062629

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Month to 120 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
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 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. 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	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 1. Inability to express variant in plasmid for residual enzyme and co-transfection analyses

Inclusion Criteria

Exclusion Criteria

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
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.
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

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
1. Inability to express variant in plasmid for residual enzyme and co-transfection analyses

Contacts and Locations

Study Contact

Eric Rush

CONTACT

816-302-3290

hpp@cmh.edu

Principal Investigator

Eric Rush

PRINCIPAL_INVESTIGATOR

Children's Mercy Hospital Kansas City

Study Locations (Sites)

Children's Mercy Hospital

Kansas City, Missouri, 64108

United States

Collaborators and Investigators

Sponsor: Children's Mercy Hospital Kansas City

Eric Rush, PRINCIPAL_INVESTIGATOR, Children's Mercy Hospital Kansas City

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-08-24

Study Completion Date2026-08-01

Study Record Updates

Study Start Date2021-08-24

Study Completion Date2026-08-01

Terms related to this study

Additional Relevant MeSH Terms

Hypophosphatasia