Purpose

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 increase the risk of these compression fractures. 3. We will follow people with all forms of OI to see how often they develop scoliosis (curvature of the spine). We will look at the effects of scoliosis on lung function, ability to walk and quality of life. We will also look at the effects of various treatments (bracing, surgery, etc.) on scoliosis and lung function. 4. We will look at dental health in people with OI. We will see how often people with OI have problems with teeth alignment. Importantly, we will see how dental health impacts a person's quality of life.

Condition

Eligibility

Eligible Ages
All ages
Eligible Genders
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • Natural History Study:
  • Have had a DNA test or skin collagen test that proves you have OI or
  • Your clinical history and x-rays are highly suggestive of OI, but your diagnosis has not been verified by collagen or DNA testing
  • Vertebral Compression Fractures component
  • You have a genetic change where your body makes half the normal amount of collagen. These types of genetic changes are called nonsense or frameshift mutations in COL1A1 or COL1A2 genes
  • Scoliosis in OI component:
  • You are older than 3 years of age
  • Dental and Craniofacial Abnormalities in OI component:
  • You are older than 3 years of age and agree to a dental exam and to digital photos of teeth and face being taken.

Exclusion Criteria

  • Natural History Study
  • You are can't return for study visits at least yearly
  • You have a condition other than OI
  • You have OI and a second genetic or syndromic diagnosis
  • Vertebral Compression Fractures component
  • You have used a medication such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., in the past year.
  • You have conditions other than OI that affects muscle and/or bone development (examples include cerebral palsy, rickets, etc.)
  • You have nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2.
  • Scoliosis in OI component:
  • You are unable to have spine x-rays taken.
  • Dental and Craniofacial Abnormalities in OI component:
  • You refuse the dental examination.

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Recruiting Locations

Children's National and nearby locations

Children's National Medical Center
Washington, District of Columbia 21205
Contact:
Christina Dollar
cdollar@childrensnational.org

More Details

NCT ID
NCT02432625
Status
Recruiting
Sponsor
Baylor College of Medicine

Study Contact

Dianne Dang
713.798.6694
diannen@bcm.edu

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). 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 will collect the following samples from you:

We will collect 1 teaspoon blood to study your gene, may collect skin cells with a biopsy, and collect 1 teaspoon of blood and 2 teaspoon of urine for future research on OI.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.