A clinical trial will for the first time evaluate stem cell transplantation in unborn babies as curative therapy for osteogenesis imperfecta
It is estimated that 30,000 individuals in the US live with osteogenesis imperfecta (OI). Tagged as “brittle bone disease”, OI is caused by deficiencies in the skeleton building block, collagen. There is no cure; treatment consists of procedures to increase bone strength and mobility.
Any of >1,000 genetic mutations can cause OI, and this genetic heterogeneity is reflected in the clinical disease. For example, individuals with mild OI may not be diagnosed until adulthood, whereas severe OI can be fatal or debilitating, even for unborn babies. Furthermore, mutations contributing to OI can occur de novo (anew) in the absence of family history.
Researchers at one of the world’s largest and most prestigious medical universities are pursuing stem cell transplantation to cure OI babies before birth. We have previously discussed in-utero stem cell transplantation and mesenchymal stem cells (MSCs) (here and here), two topics under scrutiny in the clinical trial set to begin January 2016.
There are several lines of preclinical and clinical data supporting escalating OI research into an in-utero stem cell transplantation clinical trial. Mice models of OI have provided proof-of-concept evidence for benefit from stem cell transplantation, as an in-utero (before birth) or post-natal (after birth) procedure. Importantly, clinical successes have been reported with five pediatric patients who received adult bone marrow stem cell transplantation, and two gestational patients who received MSC before birth.
The number of patients expected to benefit from in-utero stem cell transplantation is likely to be small. But with advances in diagnostic technology and lower costs, and an impetus for prenatal screening, there is a potential for identifying patients earlier in life, when medical interventions will bring about the greatest benefit.
At HemaCare, we follow developments in stem cell transplantation while we continue to provide stem cells for research that lead to clinical translations.
- Westgren M, Götherström C. Stem cell transplantation before birth – a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn. 2015 Sep; 35(9):827-32