Pamidronate to Treat Osteogenesis Imperfecta in Children

INCLUSION CRITERIA: Children enrolled in this study will be limited to those with Sillence types III and IV OI,as determined by clinical and genetic criteria. Most of the children who will be included in this study are already enrolled in theprotocols Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination inOsteogenesis Imperfecta (97-CH-0064) and Growth Hormone Therapy in Osteogenesis Imperfecta (92-CH-0034). Screening of candidates will be based on telephone interviews with a parent, and referralrecords to include: AP and lateral radiographs of the lower extremities and spine, andfamily, developmental, fracture and medical history. An NIH clinical screening evaluationwill be performed for those children who appear to have a history consistent with OI underprotocol 04-CH-0077, Screening of and Diagnosis of Patients with Connective Tissue Disorder . Patients admitted for this screening visit who are less than four years of age as well asthose older than 4 years of age but not meeting the criteria for inclusion in the growthhormone protocol, protocol 92-CH-0034, will be considered for enrollment in protocol 97-CH-0064 (Evaluation and Intervention for Ambulation, Growth and Basilar Invagination inOI), those older than four years who meet the criteria will be considered for co-enrollmentin protocol 92-CH-0034. The inclusion criteria for protocol 92-CH-0034 are as follows: patients must have aclinical/biochemical diagnosis of osteogenesis imperfecta types III or IV, height less thanthird percentile for age, and radiological evidence that long bone epiphyses have not yetfused. Patients are excluded from protocol 92-CH-0034 if they have scoliosis of greater than 40degrees unless scoliosis has been stable over the past two years, or evidence of severebasilar invagination. Patients with previous exposure to bisphosphonates in outside trials will be considered forparticipation in this trial.

EXCLUSION CRITERIA: Inability to comply with the visit schedule, maintenance of the physical therapy program,and ability to administer and comply with GH injections are central to our analysis of theoutcomes of this study. Failure to comply with these conditions will constitute exclusioncriteria. Pregnancy. Patients that have had or will have surgery to place instrumentation in the spine (i.e.result of spine fusion).