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Osteogenesis ImperfectaNCT02432625

BBD Longitudinal Study of Osteogenesis Imperfecta

An observational study of Osteogenesis Imperfecta, run by Baylor College of Medicine at 12 sites in 2 countries.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. Read more about this study

Who is it for?
Any age
Conditions the study is for
Osteogenesis Imperfecta
How many people
1,000 participants
Where
12 sitesin 2 countries
Study dates
1 Jun 2015to 31 Dec 2031
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

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

Who may be able to join

  • 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
  • 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:
  • 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).

Who cannot join

  • 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.
  • Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.
Show all 12Show fewer
  • 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:
  • Males
  • Females who are peri-menopausal or menopausal
  • Females who had gestations associated with higher order multiples.

Trial locations and contacts

12 sites in 2 countries. Contact the study team or a site near you to ask about taking part.

Dianne Nguyen contact

713.798.6694

diannen@bcm.edu

12 sites in 2 countries

United States11 sites, 11 recruiting

  • Kennedy Krieger Institute / Hugo W. Moser Research Institute

    Baltimore, Maryland, 21205

    Libby Walker, WalkerEl@kennedykrieger.org

    Malinda Wu, MD

    Recruiting

  • Baylor College of Medicine

    Houston, Texas, 77030

    Dianne Nguyen, 713-798-6694, diannen@bcm.edu

    V.Reid Sutton, MD

    Recruiting

  • University of California Los Angeles

    Los Angeles, California, 90095

    Sarah Gaunt, sgaunt@mednet.ucla.edu

    Deborah Krakow, MD

    Recruiting

  • Shriners Hospital for Children, Chicago / Marquette University

    Milwaukee, Wisconsin, 53201

    Angela Caudill, MPT, 773-385-5868, acaudill@shrinenet.org

    Karen Kruger, PhD

    Recruiting

  • Hospital for Special Surgery

    New York, New York, 10021

    Chloe DeRocher, derocherc@hss.edu

    Cathleen Raggio, MD

    Recruiting

  • University of Nebraska Medical Center

    Omaha, Nebraska, 68198

    Sarah O'Neill, (402) 616-0562, sarah.oneill@unmc.edu

    Danita Velasco, MD

    Recruiting

  • Phoenix Children's Hospital

    Phoenix, Arizona, 85016

    Isabella Wheeler, iwheeler@phoenixchildrens.com

    Pamela Smith, MD

    Recruiting

  • Oregon Health and Science University

    Portland, Oregon, 97239

    Melanie Abrahamson, abrahamm@ohsu.edu

    Eric Orwoll, MD

    Recruiting

  • University of South Florida

    Tampa, Florida, 33620

    Elaine Deval, 813-974-0104, edeval@usf.edu

    Danielle Gomez, MD

    Recruiting

  • Children's National Medical Center

    Washington D.C., District of Columbia, 21205

    Andrew Pennington, 202-476-5562, apenningto@childrensnational.org

    Laura Tosi, MD

    Recruiting

  • AI Dupont Hospital for Children

    Wilmington, Delaware, 19803

    Katie Richard, 302.298.8367, Katherine.Richard@nemours.org

    Jeanne Franzone, MD

    Recruiting

Other trials in United States

Canada1 site, 1 recruiting

  • Shriners Hospital for Children

    Montreal, Quebec, H3G 1A6

    Michaela Durigova, 514-282-7158, mdurigova@shriners.mcgill.ca

    Frank Rauch, MD

    Recruiting

Other trials in Canada

About this study

Official title: Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life.

The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.

Read the detailed description

The purpose of this natural history study is to perform a long-term follow-up of a large group of people with osteogenesis imperfecta (OI). The research aims are:

  1. To collect natural history data on all individuals enrolled in this longitudinal study. The cause of the brittle bone disease will be compared with things like severity, various features and response to treatments.
  2. To determine how often people with type I OI have vertebral compression fractures of the spine.
  3. To determine how often people with OI develop scoliosis (curvature of the spine).
  4. To determine how often people with OI have problems with teeth alignment and how dental health impacts a person's quality of life.
  5. To determine the effect of pregnancy in women with OI.

There will be a total of 1000 people with OI in this study. Participants will be asked to come in every year if 17Y and younger or every other year if 18Y and older for a total of five years.

The following information will be collected at the study visits:

Birth History and past surgical history, Current medical history, Scoliosis evaluation, Walking ability Questionnaire, Dental Quality of Life Questionnaire, Scoliosis and fractures Quality of Life Questionnaires, Physical development evaluation, Medications Use

The following tests will be performed:

Physical exam, dental exam, lung function test, hearing test, mobility test.

The following X-rays will be taken:

DEXA scan, X-ray of the spine, X-ray of the jaw.

Biospecimen (urine and blood) samples will be collected.

Keywords
Osteogenesis Imperfecta, Collagen, Brittle Bone Disorder, Rare Disease Clinical Research Network, COL1A2
Medical subject headings
Osteogenesis Imperfecta, Brittle Bone Disorder, Osteogenesis Imperfecta, Type V

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Natural History of OI

    The molecular basis of the brittle bone disease will be correlated with phenotype, disease progression and response to current standard of care therapies.

    Measured: 10 years

Secondary outcomes (6)

  1. Incidence and progression of scoliosis in OI

    Incidence and progression of scoliosis in OI analyzed by subtype and Cobb Angle assessment

    Measured: 10 years

  2. Number Vertebral compression fractures in OI HaploInsufficiency

    Number and location of Vertebral compression fractures in OI-HI

    Measured: 10 years

  3. Incidence of Oral and craniofacial anomalies

    Incidence and progression of oral and craniofacial anomalies as captured by panorex and dental exam

    Measured: 10 years

  4. Satisfaction of Oral Health 15Y+

    Satisfaction of Oral health as measure by the OHIP 20

    Measured: 10 years

  5. Satisfaction of Oral Health 11Y-14Y

    Satisfaction of Oral health as measure by the Oral health QOL 11-14Yrs

    Measured: 10 years

  6. Effect of pregnancy in women with OI

    Change in Spine, Hip, and radius Bone Mineral Density in pregnant women with OI

    Measured: 10 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted4 May 2015 (estimated)
  2. Study start1 Jun 2015
  3. Primary completion31 Aug 2030 (estimated)
  4. Study completion31 Dec 2031 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
1,000 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02432625
Sponsor's protocol ID
H36165
Status last verified
Aug 2026
First submitted
29 Apr 2015
Last updated
1 Sep 2026
Results posted
No
Data monitoring committee
Yes

Questions about this trial

What is this clinical trial studying?

An observational study of Osteogenesis Imperfecta, run by Baylor College of Medicine at 12 sites in 2 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 8 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 1 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 12 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Dianne Nguyen (713.798.6694, diannen@bcm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Natural History of OI (time frame: 10 years). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02432625.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Sep 2026.

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BBD Longitudinal Study of Osteogenesis Imperfecta | AzTrials