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RecruitingNCT02432625Updated Sep 1, 2026

BBD Longitudinal Study of Osteogenesis Imperfecta

An observational study in Osteogenesis Imperfecta, sponsored by Baylor College of Medicine. Recruiting at 12 sites in 2 countries. Per ClinicalTrials.gov, last updated 2026-09-01.

Sponsored by Baylor College of Medicine · Observational

From the registry’s dates

  • Started Jun 2015; still recruiting 11 years 5 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
1,000
Sex
All
01

Study 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. 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.

02

Conditions studied

  • Osteogenesis Imperfecta

Keywords

  • Osteogenesis Imperfecta
  • Collagen
  • Brittle Bone Disorder
  • Rare Disease Clinical Research Network
  • COL1A2
03

In context

Osteogenesis Imperfecta

84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.

This study's planned enrollment of 1,000 is above the median of 75 across 23 observational studies indexed under Osteogenesis Imperfecta.

Browse Osteogenesis Imperfecta studies →

Lead sponsor

Baylor College of Medicine is the lead sponsor of 747 studies on the registry; 110 are open to participants now.

Of its 84 completed or terminated interventional studies of FDA-regulated products, 45 (54%) have results posted.

Browse Baylor College of Medicine studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Probability sample

Study population

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

Eligibility criteria

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.
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
1,000 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  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.

    Time frame: 10 years

Secondary outcomes

  1. Incidence and progression of scoliosis in OI

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

    Time frame: 10 years

  2. Number Vertebral compression fractures in OI HaploInsufficiency

    Number and location of Vertebral compression fractures in OI-HI

    Time frame: 10 years

  3. Incidence of Oral and craniofacial anomalies

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

    Time frame: 10 years

  4. Satisfaction of Oral Health 15Y+

    Satisfaction of Oral health as measure by the OHIP 20

    Time frame: 10 years

  5. Satisfaction of Oral Health 11Y-14Y

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

    Time frame: 10 years

  6. Effect of pregnancy in women with OI

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

    Time frame: 10 years

07

Study locations

12 of 12 sites recruiting
  • Phoenix Children's Hospital
    Phoenix, Arizona 85016, United States
    Recruiting
  • University of California Los Angeles
    Los Angeles, California 90095, United States
    Recruiting
  • AI Dupont Hospital for Children
    Wilmington, Delaware 19803, United States
    Recruiting
  • Children's National Medical Center
    Washington D.C., District of Columbia 21205, United States
    Recruiting
  • University of South Florida
    Tampa, Florida 33620, United States
    Recruiting
    • Elaine Deval · Contactedeval@usf.edu · 813-974-0104
    • Danielle Gomez, MD · Principal investigator
  • Kennedy Krieger Institute / Hugo W. Moser Research Institute
    Baltimore, Maryland 21205, United States
    Recruiting
  • University of Nebraska Medical Center
    Omaha, Nebraska 68198, United States
    Recruiting
    • Sarah O'Neill · Contactsarah.oneill@unmc.edu · (402) 616-0562
    • Danita Velasco, MD · Principal investigator
  • Hospital for Special Surgery
    New York, New York 10021, United States
    Recruiting
    • Chloe DeRocher · Contactderocherc@hss.edu
    • Cathleen Raggio, MD · Principal investigator
  • Oregon Health and Science University
    Portland, Oregon 97239, United States
    Recruiting
    • Melanie Abrahamson · Contactabrahamm@ohsu.edu
    • Eric Orwoll, MD · Principal investigator
  • Baylor College of Medicine
    Houston, Texas 77030, United States
    Recruiting
    • Dianne Nguyen · Contactdiannen@bcm.edu · 713-798-6694
    • V.Reid Sutton, MD · Principal investigator
  • Shriners Hospital for Children, Chicago / Marquette University
    Milwaukee, Wisconsin 53201, United States
    Recruiting
    • Angela Caudill, MPT · Contactacaudill@shrinenet.org · 773-385-5868
    • Karen Kruger, PhD · Principal investigator
  • Shriners Hospital for Children
    Montreal, Quebec H3G 1A6, Canada
    Recruiting
    • Michaela Durigova · Contactmdurigova@shriners.mcgill.ca · 514-282-7158
    • Frank Rauch, MD · Principal investigator
    • Francis Glorieux, MD · Sub investigator
08

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Jun 2015 (actual). Primary completion is estimated for Aug 2030, 182 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Apr 29, 2015
First posted
May 4, 2015
StartActual
Jun 1, 2015
Primary completionEst.
Aug 31, 2030
CompletionEst.
Dec 31, 2031
Last update
Sep 1, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Sep 1, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT02432625
Lead sponsor
Baylor College of Medicine
Collaborators
Shriners Hospitals for Children, Hospital for Special Surgery, New York, Children's National Research Institute, Hugo W. Moser Research Institute at Kennedy Krieger, Inc., University of California, Los Angeles, Oregon Health and Science University, University of Nebraska, Alfred I. duPont Hospital for Children, University of South Florida, Phoenix Children's Hospital, Marquette University
Responsible party
Brendan Lee (Professor and Chairman, Baylor College of Medicine) — Principal investigator
First posted
May 4, 2015
Start date
Jun 1, 2015
Primary completion
Aug 31, 2030 (estimated)
Completion
Dec 31, 2031 (estimated)
Last update
Sep 1, 2026

Study contacts

Dianne Nguyen
Contact
diannen@bcm.edu
713.798.6694
V. Reid Sutton, M.D.
study chair · Baylor College of Medicine
Frank Rauch, M.D.
study chair · McGill University

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

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