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Researchers track rare bone disorder in kids to uncover clues

NCT ID NCT03575221

Knowledge-focused Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Source: ClinicalTrials.gov ↗

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Sep 03, 2026 · Updated 2 times

Summary

This study followed 46 children with osteogenesis imperfecta (OI), a rare connective tissue disorder that causes frequent fractures and short stature. Researchers collected medical history, physical exams, hearing and dental tests, X-rays, bone scans, and genetic samples over several years. The goal was to learn how the disease progresses and how specific gene changes relate to symptoms, without testing any new 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

46 people

The number who actually took part.

Started

Jul 2018

Finished

Jan 2024

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

Individuals of all ages, races, genders, and nationalities@@@@@@

Ages

1 day to 120 years

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: In order to be eligible to participate in this study, an individual must meet either #1 OR #2 of the following criteria: 1. Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols for whom childhood data were collected at the NIH. OR 2. Individuals from birth to age 12 years at enrollment to this protocol 18-CH-0120 with a diagnosis of any of OI type III - XVIII or potential additional types. Diagnosis of OI determined by identification of: 1. A mutation in one allele of genes causing autosomal dominant OI types (COL1A1, COL1A2, or IFITM5), OR 2. at least one mutation in genes that are indicative of the autosomal recessive OI types. OR Individuals with a clinical diagnosis of OI, and a mutation in one of the above genes identified through the Rare Bone disease screening protocol (04-CH-0077). EXCLUSION CRITERIA: * Individuals with the diagnosis of OI Type I. * Individuals who cannot travel to the NIH because of their medical condition. * Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation. \<TAB\> There are no exclusionary criteria related to race or gender for this protocol.

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Conditions

The condition(s) this trial relates to.

Dwarfism osteogenesis imperfecta

As listed by the trial registrant

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

Osteogenesis imperfecta Short stature

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

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