BBD Longitudinal Study of Osteogenesis Imperfecta
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|ClinicalTrials.gov Identifier: NCT02432625|
Recruitment Status : Recruiting
First Posted : May 4, 2015
Last Update Posted : July 30, 2019
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:
- 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.
- 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.
- 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.
- 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 or disease|
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,
- lung function and breathing
- 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.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta|
|Study Start Date :||June 2015|
|Estimated Primary Completion Date :||June 2020|
|Estimated Study Completion Date :||June 2025|
- 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.
- 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
Biospecimen Retention: Samples With DNA
- Skin cells
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02432625
|Contact: Dianne Dangfirstname.lastname@example.org|
|United States, California|
|University of California Los Angeles||Recruiting|
|Los Angeles, California, United States, 90095|
|Contact: Samantha Alon 310-794-6420 SAlon@mednet.ucla.edu|
|Principal Investigator: Deborah Krakow, MD|
|United States, District of Columbia|
|Children's National Medical Center||Recruiting|
|Washington, District of Columbia, United States, 21205|
|Contact: Christina Dollar email@example.com|
|Contact: Austin Gillies firstname.lastname@example.org|
|Principal Investigator: Laura Tosi, MD|
|United States, Florida|
|Tampa Shriners Hospital for Children||Recruiting|
|Tampa, Florida, United States, 33612|
|Contact: Margaret Gross-King 813-972-2250 ext 7538 email@example.com|
|Principal Investigator: Danielle Gomez, MD|
|United States, Maryland|
|Kennedy Krieger Institute / Hugo W. Moser Research Institute||Recruiting|
|Baltimore, Maryland, United States, 21205|
|Contact: Jennifer Nagy, RN, BSN 443-923-2704 Nagy@kennedykrieger.org|
|Principal Investigator: Mahim Jain, MD|
|United States, Nebraska|
|University of Nebraska Medical Center||Recruiting|
|Omaha, Nebraska, United States, 68198|
|Contact: Elizabeth Strudthoff, B.S. 402-559-0681 firstname.lastname@example.org|
|Principal Investigator: Paul Esposito, MD|
|United States, New York|
|Hospital for Special Surgery||Recruiting|
|New York, New York, United States, 10021|
|Contact: Sobiah Khan 212-774-2355 KhanS@HSS.EDU|
|Principal Investigator: Cathleen Raggio, MD|
|United States, Oregon|
|Oregon Health and Science University||Recruiting|
|Portland, Oregon, United States, 97239|
|Contact: Catherine Pederson 503-494-0225 email@example.com|
|Principal Investigator: Eric Orwoll, MD|
|United States, Texas|
|Baylor College of Medicine||Recruiting|
|Houston, Texas, United States, 77030|
|Contact: Dianne Dang 713-798-6694 firstname.lastname@example.org|
|Principal Investigator: V.Reid Sutton, MD|
|United States, Wisconsin|
|Shriners Hospital for Children, Chicago / Marquette University||Recruiting|
|Milwaukee, Wisconsin, United States, 53201|
|Contact: Angela Caudill, MPT 773-385-5868 email@example.com|
|Principal Investigator: Peter Smith, MD|
|Shriners Hospital for Children||Recruiting|
|Montreal, Quebec, Canada, H3G 1A6|
|Contact: Michaela Durigova 514-282-7158 firstname.lastname@example.org|
|Principal Investigator: Frank Rauch, MD|
|Sub-Investigator: Francis Glorieux, MD|
|Study Chair:||V. Reid Sutton, M.D.||Baylor College of Medicine|
|Study Chair:||Frank Rauch, M.D.||McGill University|