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Can genetics predict the course of brittle bone disease?

NCT ID NCT02432625

Knowledge-focused Sponsor: Baylor College of Medicine Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 01, 2026 · Last updated Sep 02, 2026 · Updated 1 time

Summary

This study follows up to 1,000 people with osteogenesis imperfecta, also known as brittle bone disease, a rare condition that causes bones to break easily. Researchers aim to connect each person's genetic cause with their symptoms, disease progression, and response to current treatments. The study also tracks complications like scoliosis and spine fractures. By mapping the natural history of the disease, the findings could help design better clinical trials and improve care.

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 study could map how different genetic causes of brittle bone disease affect fractures, scoliosis, and quality of life, laying the groundwork for future treatments.
What could go wrong
This is an observational study, not a treatment trial, so it will not directly test any therapy. Results depend on long-term follow-up, and some participants may drop out, which could limit the findings.

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

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2015

Expected to finish

Dec 2031

An estimate. End dates often move.

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

Individuals with a diagnosis of Osteogenesis Imperfecta are eligible to enroll in the natural history study.

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.

Natural History Study: Inclusion Criteria: * Individuals with OI diagnosed by molecular (DNA) analysis OR * Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies Exclusion criteria: * Individuals who are unable to return for their scheduled follow up visits. * Individuals with skeletal dysplasias other than OI * Individuals with OI and a second genetic or syndromic diagnosis Vertebral Compression Fractures component Inclusion criteria • Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 of any age and clinical features of OI type I. Exclusion criteria * Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment. * Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and/or bone development (i.e. cerebral palsy, rickets) * Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency. Scoliosis in OI component: Inclusion Criteria * All study participants between the ages of 3 to 17 years OR * Study participants 18 years and older with scoliosis Dental and Craniofacial Abnormalities in OI component: Inclusion Criteria • All subjects aged 3 years and older enrolled in the Longitudinal Study Exclusion Criteria Subjects who refuse the dental examination Pregnancy in OI component: Inclusion criteria • Females of reproductive age with mutations in any known gene causing OI, who are contemplating pregnancy within 5 years of enrollment in the Natural History Study OR Females who are pregnant with available pre-pregnancy BMD (within 5 years prior to the first pregnancy visit). Exclusion criteria * Males * Females who are peri-menopausal or menopausal * Females who had gestations associated with higher order multiples.

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Conditions

The condition(s) this trial relates to.

brittle bone disorder osteogenesis imperfecta osteogenesis imperfecta type 5

As listed by the trial registrant

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

Osteogenesis imperfecta

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    12 sites in 2 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • AI Dupont Hospital for Children

    RECRUITING

    Wilmington, Delaware, 19803, United States

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

  • Children's National Medical Center

    RECRUITING

    Washington D.C., District of Columbia, 21205, United States

  • Hospital for Special Surgery

    RECRUITING

    New York, New York, 10021, United States

  • Kennedy Krieger Institute / Hugo W. Moser Research Institute

    RECRUITING

    Baltimore, Maryland, 21205, United States

  • Oregon Health and Science University

    RECRUITING

    Portland, Oregon, 97239, United States

  • Phoenix Children's Hospital

    RECRUITING

    Phoenix, Arizona, 85016, United States

  • Shriners Hospital for Children

    RECRUITING

    Montreal, Quebec, H3G 1A6, Canada

  • Shriners Hospital for Children, Chicago / Marquette University

    RECRUITING

    Milwaukee, Wisconsin, 53201, United States

  • University of California Los Angeles

    RECRUITING

    Los Angeles, California, 90095, United States

  • University of Nebraska Medical Center

    RECRUITING

    Omaha, Nebraska, 68198, United States

  • University of South Florida

    RECRUITING

    Tampa, Florida, 33620, United States

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