A new study published by the journal STEM CELLS Translational Medicine shows that stem cells can be effective in treating brittle bone disease, a debilitating and sometimes lethal genetic disorder.
Also known as osteogenesis imperfecta (OI), this genetic disorder was popularized by actor Samuel T. Jackson in the Bruce Willis movie “Unbreakable.” OI is characterized by fragile bones that cause patients to suffer hundreds of fractures over the course of a lifetime. According to the OI Foundation, other symptoms include muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, brittle teeth and short stature. In the more severe cases of OI, restrictive pulmonary disease also occurs. Unfortunately, to date no cure exists for OI.
Physicians use ultrasound to detect OI in babies before they are born. In this study, an international research team treated two patients for the disease with mesenchymal stem cells (MSCs) while the infants were still in the womb. After they were born, the babies were given additional mesenchymal stem cell treatments.
“We had previously reported on the prenatal transplantation for the patient with OI type III, which is the most severe form in children who survive the neonatal period,”said Cecilia Götherström, Ph.D., of the Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. She and Jerry Chan, M.D., Ph.D., of the Yong Loo Lin School of Medicine and National University of Singapore, and KK Women’s and Children’s Hospital, led the study that also included colleagues from the United States, Canada, Taiwan and Australia.
“The first eight years after the prenatal transplant, our patient did well and grew at an acceptable rate. However, she then began to experience multiple complications, including fractures, scoliosis and reduction in growth, so the decision was made to give her another MSC infusion. In the two years since, she has not suffered any more fractures and improved her growth. She was even able to start dance classes, increase her participation in gymnastics at school and play modified indoor hockey,”Dr. Götherström added.
The second child suffered from a milder form of OI and received a stem cell transfusion 31 weeks into gestation and did not suffer any new fractures for the remainder of the pregnancy or during infancy. She followed her normal growth pattern — just under the third percentile in height, but when she was 13 months old, she stopped growing. Six months later, the doctors gave her another infusion of stem cells and she resumed growing at her previous rate.
“Our findings suggest that prenatal transplantation of autologous stem cells in OI appears safe and is of likely clinical benefit and that re-transplantation with same-donor cells is feasible. However, the limited experience to date means that it is not possible to be conclusive, for which further studies are required,”Dr. Chan said.
“Although the findings are preliminary, this report is encouraging in suggesting that prenatal transplantation may be a safe and effective treatment for this condition,”said Anthony Atala, M.D., editor of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine.