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NCT05062629 · ClinicalTrials.gov registry record
United States Hypophosphatasia Molecular Research Center
A clinical trial of Hypophosphatasia, sponsored by Children's Mercy Hospital Kansas City.
- Recruiting
- Registry status
- 66
- Enrollment target
- 1
- Study location
NCT05062629: Recruiting study of Hypophosphatasia, sponsored by Children's Mercy Hospital Kansas City.
NCT05062629 is a study of Hypophosphatasia that is actively recruiting participants, run by Children's Mercy Hospital Kansas City. The registered enrollment target is 66 participants, below the 73-participant average among 6 other Hypophosphatasia trials with a reported enrollment target (10% lower). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT05062629, a study of Hypophosphatasia, is actively recruiting participants, sponsored by Children's Mercy Hospital Kansas City.
- RECRUITING
- Registry status
- 66 participants
- Enrollment target
- 1
- Study location
Study 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.
Primary Outcome
Identification of cryptic alterations in the ALPL, with careful focus on cryptic variants within the 12 exons, intronic variants, and variants in regulatory elements. Characterization of loss of function or dominant negative effect in variants which are considered to be of uncertain clinical significance by American College of Medical Genetics guidelines for variants interpretation such that variants are able to be reclassified into actionable (pathogenic, likely pathogenic) or nonactionable (b
Conditions Studied
Interventions
- GENETIC Whole Genome Sequencing
Study Locations (1)
Missouri
- Children's Mercy Hospital - Kansas City
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 66 participants |
| Start Date | 2021-08-24 |
| Est. Completion | 2026-06-30 |
What NCT05062629 shows while recruiting
NCT05062629 is an observational study that tracks outcomes without assigning an intervention. The registry caps enrollment at 66 participants, a relatively small participant target, below the 73-participant average among 6 other Hypophosphatasia trials with a reported enrollment target (10% lower).
The record links to 1 condition, with Hypophosphatasia appearing as the primary indexed condition, and to 1 intervention - of which Whole Genome Sequencing is the first listed.
NCT05062629 reports a single indexed study location in Missouri.
Frequently Asked Questions
What is clinical trial NCT05062629 about?
NCT05062629 is a clinical study titled "United States Hypophosphatasia Molecular Research Center". 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...
What is the current status of trial NCT05062629?
This trial is currently recruiting. The enrollment target is 66 participants. The study started on 2021-08-24. Estimated completion is 2026-06-30.
What conditions does trial NCT05062629 study?
This clinical trial studies the following conditions: Hypophosphatasia.
What interventions are being tested in trial NCT05062629?
The interventions under investigation include: Whole Genome Sequencing (GENETIC).
Who is sponsoring clinical trial NCT05062629?
This trial is sponsored by Children's Mercy Hospital Kansas City, which has 184 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT05062629 being conducted?
This trial has 1 study location across Missouri. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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