Recruiting

Observational Study

Sponsor:

Baylor College of Medicine

Code:

NCT02432625

Conditions

Osteogenesis Imperfecta

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Osteogenesis Imperfecta

Study ID

NCT02432625

Start date

Jun 1, 2015

Status verified date

Aug, 2026

Completion date

Dec 31, 2031

Anticipated

Primary completion date

Aug 31, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Natural History of OI [ Time Frame: 10 years ]

Central Contacts and Locations

Central contacts

Dianne Nguyen

713.798.6694diannen@bcm.edu

Locations

Phoenix Children's Hospital

Recruiting

Phoenix, Arizona, United States, 85016

Contacts

Isabella Wheeler

iwheeler@phoenixchildrens.com

Principal Investigator:

Pamela Smith, MD

University of California Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Sarah Gaunt

sgaunt@mednet.ucla.edu

Principal Investigator:

Deborah Krakow, MD

AI Dupont Hospital for Children

Recruiting

Wilmington, Delaware, United States, 19803

Contacts

Katie Richard

302.298.8367Katherine.Richard@nemours.org

Principal Investigator:

Jeanne Franzone, MD

Children's National Medical Center

Recruiting

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

Contacts

Andrew Pennington

202-476-5562apenningto@childrensnational.org

Principal Investigator:

Laura Tosi, MD

University of South Florida

Recruiting

Tampa, Florida, United States, 33620

Contacts

Elaine Deval

813-974-0104edeval@usf.edu

Principal Investigator:

Danielle Gomez, MD

Kennedy Krieger Institute / Hugo W. Moser Research Institute

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Libby Walker

WalkerEl@kennedykrieger.org

Principal Investigator:

Malinda Wu, MD

University of Nebraska Medical Center

Recruiting

Omaha, Nebraska, United States, 68198

Contacts

Sarah O'Neill

(402) 616-0562sarah.oneill@unmc.edu

Principal Investigator:

Danita Velasco, MD

Hospital for Special Surgery

Recruiting

New York, New York, United States, 10021

Contacts

Chloe DeRocher

derocherc@hss.edu

Principal Investigator:

Cathleen Raggio, MD

Oregon Health and Science University

Recruiting

Portland, Oregon, United States, 97239

Contacts

Melanie Abrahamson

abrahamm@ohsu.edu

Principal Investigator:

Eric Orwoll, MD

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Dianne Nguyen

713-798-6694diannen@bcm.edu

Principal Investigator:

V.Reid Sutton, MD

Shriners Hospital for Children, Chicago / Marquette University

Recruiting

Milwaukee, Wisconsin, United States, 53201

Contacts

Angela Caudill, MPT

773-385-5868acaudill@shrinenet.org

Principal Investigator:

Karen Kruger, PhD

Shriners Hospital for Children

Recruiting

Montreal, Quebec, Canada, H3G 1A6

Contacts

Michaela Durigova

514-282-7158mdurigova@shriners.mcgill.ca

Principal Investigator:

Frank Rauch, MD

More Information

Sponsor

Baylor College of Medicine

Last update posted

Sep 1, 2026

Last verified

Aug, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2026-09-01.