NCT02432625

Brief 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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
69mo left

Started Jun 2015

Longer than P75 for all trials

Geographic Reach
2 countries

12 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress66%
Jun 2015Dec 2031

First Submitted

Initial submission to the registry

April 29, 2015

Completed
5 days until next milestone

First Posted

Study publicly available on registry

May 4, 2015

Completed
28 days until next milestone

Study Start

First participant enrolled

June 1, 2015

Completed
15.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 31, 2030

Expected
1.3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2031

Last Updated

August 13, 2025

Status Verified

August 1, 2025

Enrollment Period

15.3 years

First QC Date

April 29, 2015

Last Update Submit

August 8, 2025

Conditions

Osteogenesis Imperfecta

Keywords

Osteogenesis ImperfectaCollagenBrittle Bone DisorderRare Disease Clinical Research NetworkCOL1A2

Outcome Measures

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.

    10 years

Secondary Outcomes (6)

  • Incidence and progression of scoliosis in OI

    10 years

  • Number Vertebral compression fractures in OI HaploInsufficiency

    10 years

  • Incidence of Oral and craniofacial anomalies

    10 years

  • Satisfaction of Oral Health 15Y+

    10 years

  • Satisfaction of Oral Health 11Y-14Y

    10 years

  • +1 more secondary outcomes

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • 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

You may not qualify if:

  • 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
  • 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.
  • 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:
  • 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:
  • 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).
  • Males
  • Females who are peri-menopausal or menopausal
  • +1 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (12)

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

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

Hospital for Special Surgery

New York, New York, 10021, United States

RECRUITING

Oregon Health and Science University

Portland, Oregon, 97239, United States

RECRUITING

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Shriners Hospital for Children, Chicago / Marquette University

Milwaukee, Wisconsin, 53201, United States

RECRUITING

Shriners Hospital for Children

Montreal, Quebec, H3G 1A6, Canada

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

1. Blood 2. Urine

MeSH Terms

Conditions

Osteogenesis ImperfectaBrittle Bone DisorderOsteogenesis Imperfecta, Type V

Condition Hierarchy (Ancestors)

OsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCollagen DiseasesConnective Tissue DiseasesSkin and Connective Tissue Diseases

Study Officials

  • V. Reid Sutton, M.D.

    Baylor College of Medicine

    STUDY CHAIR

  • Frank Rauch, M.D.

    McGill University

    STUDY CHAIR

Central Study Contacts

Dianne Nguyen

CONTACT

713.798.6694diannen@bcm.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor and Chairman

Study Record Dates

First Submitted

April 29, 2015

First Posted

May 4, 2015

Study Start

June 1, 2015

Primary Completion (Estimated)

August 31, 2030

Study Completion (Estimated)

December 31, 2031

Last Updated

August 13, 2025

Record last verified: 2025-08

Locations

US(11)CA(1)