Genetic deep dive uncovers hidden clues in rare bone disease
NCT ID NCT05062629
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This completed study looked at 29 people with hypophosphatasia, a rare bone disease, who had no known genetic cause from standard tests. Researchers used whole genome sequencing to find hidden genetic changes in the ALPL gene. The goal was to better understand the disease and improve genetic diagnosis.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this research could help doctors identify genetic causes of hypophosphatasia that standard tests miss, leading to better diagnosis.
What could go wrong
This is an observational study with only 29 participants, so findings may not apply to everyone. It does not test any treatment.
Disclaimer
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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.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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Children's Mercy Hospital
Kansas City, Missouri, 64108, United States