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Treatment for Osteogenesis Imperfecta

Researchers have determined that low-dose RANKL induces TcREG and the induced TcREG suppresses bone resorption. In vivo studies had demonstrated improved bone mass (i.e., bone volume and bone density).

BACKGROUND:
Classical osteogenesis imperfecta (OI), or brittle bone disease, is an autosomal dominant genetic disorder that mainly affects the bones. It is caused by mutations in one of the two genes that encode type 1 collagen. Patients with OI have a variety of symptoms including bone fragility, susceptibility to fractures from minimaltrauma, skeletal deformities, blue sclera, and growth deficiency. Radiographically, long bones have abnormal modeling, with a gracile diaphysis and metaphyseal flaring. The condition varies in severity from mild to lethal. The majority of cases of OI (possibly as much as 90 percent) are caused by a dominant mutation in a gene coding for type 1 collagen (Types I, II, III, and IV). Types VII and VIII are relatively newly identified forms that are inherited in a recessive manner. The genes causing these two types have been identified. Types V and VI do not have a type 1 collagen mutation, but the genes causing them have not yet been identified.

BENEFITS:
The potential benefits of this technology include:
  • Increase the number of potentialtreatments for osteogenesis imperfecta
  • Minimize bone fragility associated associated with the disease
  • Minimize susceptibility to fractures associated with the disease
  • Minimize skeletal deformities associated with the disease
  • Minimize growth deficiencies associated with the disease
  • Minimize hearing loss associated with the disease
  • Minimize breathing problems associated with the disease
  • Minimize dental problems associated with the disease
  • Minimize risk of cervical artery dissection associated with the disease
  • Minimize risk of aortic dissection associated with the disease


APPLICATIONS:
The technology has potential application for treating osteogenesis imperfecta.

Additional Details

Owner

Saint Louis University

Intellectual Property Protection

Pending Patent



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