Scientists hunt for missing genes in rare bone disease
NCT ID NCT05062629
First seen May 03, 2026 · Last updated May 16, 2026 · Updated 3 times
Summary
This study aims to find hidden genetic changes in people with hypophosphatasia, a rare bone disease, who tested negative for known gene mutations. Researchers will also clarify whether certain uncertain gene variants actually cause the disease. About 66 participants will provide samples for advanced genetic analysis. The goal is to improve diagnosis and understanding of the condition.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Locations
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Children's Mercy Hospital
Kansas City, Missouri, 64108, United States
Conditions
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