Type V Research

OI is usually separated into four different types (OI Type I through IV). However, Drs. Francis Glorieux and Frank Rauch and Leanne Ward in the Shriners Hospital for Children in Quebec have recently identified a "new" type of OI (Type V) which has a number of unique features.

OI Type V leads to calcification of the membrane between the two forearm bones, making it difficult to turn the wrist. Another symptom is abnormally large amounts of repair tissue (hyperplasic callus) at the site of fractures. Finally, OI Type V does not show any abnormalities in collagen mutation studies. This is in direct contrast to the other types of OI, where there is usually a collagen mutation. According to the doctors' studies, OI Type V may represent about 5% of all OI cases.

At the present time, the cause for Type V is unknown, though the doctors have determined that it is inherited. The doctors are currently exploring the genetic cause for OI Type V. By determining which gene causes the disorder, doctors will be able to diagnose Type V earlier and with more certainty. The information may also lead to improved treatment(s).

To conduct this research, the doctors need blood samples from patients with OI Type V and their family members who do not have OI. The doctors will extract DNA from the samples, then destroy the samples once the analysis is complete.

If you or your child has OI, and you think it might be OI Type V, please contact Dr. Frank Rauch to learn more about this important research project. For more information write to frauch@shriners.mcgill.ca, or call Nancy Cyr, prgram secretary, at (514) 282-7158. From Canada and some parts of the Northeastern U.S. (Vermont, New Hampshire or upstate New York), call (800) 361-7256.

 


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