Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta

The purpose of this study is to determine the effectiveness of teriparatide (FORTEO), which
is human parathyroid hormone 1-34, for increasing bone mass and improving bone structure in
adults affected with Osteogenesis Imperfecta (OI). Osteogenesis imperfecta is an inherited
disorder of type I collagen, a major component of bones, and is characterized by multiple
fractures and deformities. OI affects approximately 1-2 of every 10,000 individuals.
Virtually all of the studies of potential treatments for OI have evaluated the effects of
medications only on children with OI. There is no cure for osteogenesis imperfecta and there
is no established medical therapy for adults with the disorder. There are very limited data
concerning the usefulness of parathyroid hormone therapy in OI. An effective anabolic therapy
for the treatment of adult patients with OI could be a valuable asset to the affected
patients. In this study, the working hypothesis is that individuals affected with OI who are
treated with Forteo will experience increased spine and hip bone mineral density and an
increase in bone strength. Although Forteo is not expected to change the defect in the
collagen produced, but is postulated to increase the quantity of bone formed and improve bone
strength.

This will be a placebo controlled, double blinded trial; half the patients will receive
Forteo 20 ug/day SQ. Adult patients (age at least 18 yrs) with OI will be enrolled for a
treatment duration of 18 months. Blood, urine, and bone density/strength tests will be done
during the study to assess efficacy and safety.

Inclusion Criteria:

- Previous established diagnosis of Osteogenesis Imperfecta AND

- > 2 previous adult fractures, AND/OR

- BMD at lumbar spine, femoral neck or total hip T score < -2.0

Exclusion Criteria:

- Open epiphyses.

- History of external beam radiation to the skeleton.

- Pagets disease.

- Bone metastases or skeletal malignancies.

- Total lifetime exposure to any antiresorptive medication < 90 days (Primary
Inclusion).

- Treatment with any antiresorptive medication 12 months proceeding enrollment -
(Secondary Inclusion).

- Women with OI who are pregnant or unwilling to use 1 form of contraception.

- Vitamin D insufficiency (25-hydroxyvitamin D <15ng/ml)