Clinical Trial: BBD Longitudinal Study of Osteogenesis Imperfecta

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief Summary:

Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to very mild. Individuals with the most severe type of OI may die at birth. People with severe OI who survive may have bowed arms and legs, very short stature and be unable to walk. People with the mildest form of OI may only break bones occasionally and have normal height and lifespan. People with OI also often have problems with the spine. The spine problems include compression fractures and scoliosis (a curvature of the spine). DI is characterized by grey or brown teeth that may chip and wear down and break easily.

Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. In the past decade, it was discovered that in about 5% of people with OI it is in another gene. Some doctors now classify OI both on how severe it is as well as which gene is causing OI.

Our research aims are:

  1. Perform DNA testing and collect natural history data on all individuals enrolled in this longitudinal study. The genetic cause of the brittle bone disease will be compared with things like severity, various features and response to treatments.
  2. We will see how often people with type I OI have vertebral compression fractures of the spine. We will do x-rays to see how often they get compression fractures of the vertebrae, what happens over time and any risk factors that

    Detailed Summary:

    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). We will collect information including:

    • medical history
    • number of broken bones,
    • surgeries done
    • medications taken,
    • ability to walk,
    • pain
    • lung function and breathing
    • hearing
    • bone mineral density The overall goal is to improve the health and quality of life of people with OI.

    There will be a total of 1000 people with OI in this study.

    We will ask you to come in every year for five years and we will do the following tests or ask you about your:

    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 you are using

    We will perform a physical exam, a dental exam, assess how well your lungs are working, perform a hearing test, measure your ability to walk and get around, assess your strength and if you are able to do certain things for yourself, perform a Walk Test.

    We will take the following X-rays:measure your bone density (strength) with a DEXA scan, take an X-ray of your spine, take an X-ray of your hand, take an X-ray of your jaw.

    We
    Sponsor: Baylor College of Medicine

    Current Primary Outcome: Natural History of OI [ Time Frame: 5 years ]

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


    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    • Incidence and progression of scoliosis in OI [ Time Frame: 5 years ]
      Incidence and progression of scoliosis in OI analyzed by subtype and assessment of therapeutic interventions
    • Vertebral compression fractures in OI HaploInsufficiency [ Time Frame: 5years ]
      Number and location of Vertebral compression fractures in OI-HI
    • Oral and craniofacial anomalies [ Time Frame: 5 years ]
      incidence and progression of oral and craniofacial


    Original Secondary Outcome: Same as current

    Information By: Baylor College of Medicine

    Dates:
    Date Received: April 29, 2015
    Date Started: June 2015
    Date Completion: June 2025
    Last Updated: October 26, 2016
    Last Verified: October 2016