Ongoing Projects
These are some of the projects the Genetics Unit of the Shriners Hospital for Children in Montreal is currently involved in. For scientists and medical practitioners interested in collaborating or participating on one or more of these projects, you are most welcome to contact the Genetics Unit for more detailed information.


Clinical trial of risedronate (Actonel®) in children with mild OI


Clinical trial of zoledronate (Zometa®) in children with severe forms of OI

Genetic study of OI type-V
OI is usually separated into four different types (OI Type I through IV). However, we 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. OI Type V may represent about 5% of all OI cases. At the present time, the cause for Type V is unknown, though it is clearly an inherited disease. We are currently exploring the genetic cause for OI Type V. By determining which gene causes the disorder, we should be able to diagnose Type V earlier and with more certainty. The information may also lead to improved treatment(s).
If you or your child has OI, and you think it might be OI Type V, please contact Nancy Cyr 1-800-361-7256 ext 7158, or 514-282-7158 or Dr. Frank Rauch to learn more about this important research project.
Pamidronate therapy of OI
Children with moderate to severe forms of osteogenesis imperfecta and some other conditions with very low bone mass are treated with Aredia® (pamidronate). The usual protocol is to give three pamidronate infusions lasting 4 hours each on three successive days. These treatments are repeated every 2 to 4 months depending on the age of the child. Patients are admitted to the hospital as inpatients for the first treatment to monitor for possible side effects. Subsequent treatments are given on an outpatient basis in our day-care unit. Patients arrive every morning and leave in the afternoon. Since 1992, about 260 children have been treated with great success and the protocol is shared with many physicians around the world. If you are interested in participating, you should contact Nancy Cyr .

If you wish to have more information on our outpatient department, please contact us for more details. If you are interested in participating in one of our trials and want more information, please contact our coordinator at 1-800-361-7256 ext 7158, or 514-282-7158.