Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

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All Diseases > Brittle Bone Disorders (BBD) / Osteogenesis Imperfecta (OI)

Brittle Bone Disorders (BBD) / Osteogenesis Imperfecta (OI)

Alternative Names: Fragilitas Ossium; Vrolik Disease; Brittle Bone Dysplasia

Disease Category: Brittle Bone Disorders

A group of rare, inherited disorders, caused by 19 gene loci, resulting in bone fragility, bone fractures and other problems with connective tissues. Types I through IV are caused by variant alleles in the two genes that encode the strands of type I collagen. Most other genes play a role in the transport and processing of type I collagen. Collagen is the most predominant protein in structural connective tissues, including bones. Symptoms include bone fragility, skeletal deformities, scoliosis, joint laxity, chronic pain, hearing loss, a bluish tint to the sclerae (whites of the eyes), dental problems, and respiratory problems.

Research groups studying this disease

Brittle Bone Disorders
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Brittle Bone Disorders Consortium (BBDC)

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Recruiting

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). OI is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, curvature of the spine, 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. This study will observe the progression of the disease from participants of all ages, races, and genders. We will see how often people with type I OI have vertebral compression fractures of the spine. We will follow people with all forms of OI to see how often they develop scoliosis (curvature of the spine) and how it affects lung function, ability to walk and quality of life. We will look at dental health in people with OI and how that impacts a person’s quality of life. The genetic cause of the brittle bone disease will be compared with things like severity, various features and response to treatments. The overall goal is to improve the health and quality of life of people with OI.

The purpose of this study is to determine if it is safe to use clear aligners in correcting the misalignment of teeth in people with Osteogenesis imperfecta (OI). OI can affect the shape of the face, mouth and overall quality of life. Misalignment of teeth may interfere with oral hygiene, gum health, jaw function, opening of the jaw, chewing, breathing, and speech. There is very little information on the appropriate treatment for teeth misalignment in OI. Clear aligners are transparent plastic trays that are designed to fit over the teeth. With each new tray, teeth are moved a little at a time until they reach the desired position.

The overall purpose of this study is to understand the mental health concerns, psychosocial functioning, and priority treatment needs of individuals with OI. There are numerous health difficulties linked with OI. These difficulties can negatively impact the overall health of those affected. Despite the importance of mental health and pain in the OI community, there is limited research available on these topics. The primary goal of this project is to improve understanding about the mental health concerns, psychological and social functioning, and priority treatment needs of individuals with OI by engaging those with relevant expertise in a focused interview format.

Aims to improve quality of life for people affected by osteogenesis imperfecta (OI) through research, education, awareness, and mutual support.