RECRUITING

BBD Longitudinal Study of Osteogenesis Imperfecta

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2015-06
Study Completion:2026-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02432625

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Individuals with OI diagnosed by molecular (DNA) analysis OR
  2. * Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies
  1. * Individuals who are unable to return for their scheduled follow up visits.
  2. * Individuals with skeletal dysplasias other than OI
  3. * Individuals with OI and a second genetic or syndromic diagnosis
  4. * Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.
  5. * Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and/or bone development (i.e. cerebral palsy, rickets)
  6. * Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency.
  7. * All study participants between the ages of 3 to 17 years OR
  8. * Study participants 18 years and older with scoliosis
  9. * Males
  10. * Females who are peri-menopausal or menopausal
  11. * Females who had gestations associated with higher order multiples.

Contacts and Locations

Study Contact

Dianne Nguyen
CONTACT
713.798.6694
diannen@bcm.edu

Principal Investigator

V. Reid Sutton, M.D.
STUDY_CHAIR
Baylor College of Medicine
Frank Rauch, M.D.
STUDY_CHAIR
McGill University

Study Locations (Sites)

Phoenix Children's Hospital
Phoenix, Arizona, 85016
United States
University of California Los Angeles
Los Angeles, California, 90095
United States
AI Dupont Hospital for Children
Wilmington, Delaware, 19803
United States
Children's National Medical Center
Washington, District of Columbia, 21205
United States
University of South Florida
Tampa, Florida, 33620
United States
Kennedy Krieger Institute / Hugo W. Moser Research Institute
Baltimore, Maryland, 21205
United States
University of Nebraska Medical Center
Omaha, Nebraska, 68198
United States
Hospital for Special Surgery
New York, New York, 10021
United States
Oregon Health and Science University
Portland, Oregon, 97239
United States
Baylor College of Medicine
Houston, Texas, 77030
United States
Shriners Hospital for Children, Chicago / Marquette University
Milwaukee, Wisconsin, 53201
United States

Collaborators and Investigators

Sponsor: Baylor College of Medicine

  • V. Reid Sutton, M.D., STUDY_CHAIR, Baylor College of Medicine
  • Frank Rauch, M.D., STUDY_CHAIR, McGill University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-06
Study Completion Date2026-12

Study Record Updates

Study Start Date2015-06
Study Completion Date2026-12

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • Osteogenesis Imperfecta