Treatment
OI is treated primarily by managing fractures and promoting as much mobility and independence as possible. Prolonged immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short-term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.
Various minerals and medications have been tested throughout the years to determine if they strengthen bone in OI. Most of these substances have not been proven effective. Current therapy is focused on bisphosphonates.
- Healthy Lifestyle
- Cyclic intravenous Pamidronate
- Intramedullary Rodding to support long bones
- Somatic Cell Therapy
Healthy Lifestyle
People living with OI benefit from a healthy lifestyle, including safe exercise and a nutritious diet. Adequate intake of nutrients, such as calcium (to maintain bone density) and Vitamin C (to promote healing) is important. However, mega doses of these nutrients are not recommended.
Evaluation by a physician or registered dietitian will help people with OI determine adequate nutrient intake for their body size and age. It is also recommended that people with OI avoid smoking, excessive alcohol or caffeine consumption, and steroid medications, which may affect bone density.
Physical therapy is beneficial for children and adults with OI to maintain independence and bone and muscle mass. The long-term goal for children with OI is independence in all life functions (e.g., self-care, locomotion, recreation, social interaction, and education), with adaptive devices as needed. Swimming and water therapy are particularly well-suited for people with OI of all ages, as they allow independent movement with little fracture risk. Walking is also excellent exercise for those who are able (with or without mobility aids).
Cyclic intravenous Pamidronate
Cyclic intravenous Pamidronate is a safe short-term therapy for the treatment of osteoporosis in children with Osteogenesis Imperfecta.
Cyclic Intravenous Pamidronate therapy uniformly results in improvement with
- increased mobility,
- decreased pain,
- increased feeling of well-being,
- decreased fractures, and
- an increase in bone density. Bone densitometry can be standardised for children and cyclic intravenous Pamidronate can be shown to increase BMD throughout the skeleton. There is a positive enhancement of growth, a trend towards normal remodeling of long bones and spine.
- Two regimens have been effective:
- For many children there is a return to normal ranges of bone density within two to three years of commencing therapy. The largest changes are visible in infants and during puberty.
- A single intravenous dose given either monthly or second monthly or
- Three doses given on consecutive days every three-four months.
While monitoring needs to be undertaken in centers equipped to undertake this, therapy can be given at local hospitals supervised by pediatricians or family practitioners.
Short-term safety has been established however long-term safety remains a concern. For example, the safety of pregnancy in adults who have received bisphosphonates for many years in childhood has yet to be established.
The data from the randomised study performed at The Children’s Hospital at Westmead indicates that the maximum treatment effect occurs in the first six months after commencing treatment. The treatment regimen for children commencing therapy for Osteogenesis Imperfecta consist of intravenous Pamidronate 1 mg/kg/month given as a single infusion over two hours in the first six months. Depending on the response, therapy should then be continued with cyclic intravenous Pamidronate given every second monthly until BMD is in the normal range. Outcomes should be evaluated by centers with the experience in the clinical and rehabilitation assessment of metabolic bone disease, and with the laboratory and bone densitometry services able to offer expert monitoring.
- Read report from Professor David Sillence regarding Bisphosphonate Treatment Program – The Children’s Hospital at Westmead, 2000
- Read report on Conference in 2001 on the use of Bisphosphonates – Royal North Shore Hospital in Sydney in July 2001
- Read 1998 Report from Shriners Hospital for Children in Montreal
Intramedullary Rodding Surgery
Many children with OI undergo a surgical procedure known as rodding, in which metal rods are inserted into the long bones to control fractures and improve deformities that interfere with function. There are two basic types of rods. Non-expandable rods are more versatile but often must be replaced as the child grows. Expandable rods can grow with the bone but are only appropriate for larger bones (such as the femur) due to their thickness and need to be firmly anchored at both ends.
Somatic Cell Therapy
Somatic cell therapy such as bone marrow transplantation plays no role at the present time in the management of OI.
Stem cell therapies are being investigated in laboratory and animal studies.
Other agents such as parathyroid hormone and prostaglandins have been studied but at the present time have no therapeutic application in the Brittle Bone Disorders. Other treatments, including growth hormone, gene therapies, and cell therapies, are also being researched.
