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Genetic deep dive uncovers hidden clues in rare bone disease

NCT ID NCT05062629

Knowledge-focused Sponsor: Children's Mercy Hospital Kansas City Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

29 people

The number who actually took part.

Started

Aug 2021

Finished

Feb 2026

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Clinical diagnosis of hypophosphatasia with negative molecular testing.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: Aim 1- 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. 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: Aim 1- 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

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Conditions

The condition(s) this trial relates to.

hypophosphatasia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Hypophosphatasia

Contacts and locations

Locations

  • Children's Mercy Hospital

    Kansas City, Missouri, 64108, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.