Friday 11 March 2011
Hope for families with mitochondrial disease
Current restrictions that prevent families affected by mitochondrial myopathies from benefiting from a significant scientific breakthrough, are set to be reviewed in the UK.
The government has asked the fertility watchdog, the Human Fertility and Embryology Authority (HFEA), to review the current restrictions that prevent a new technology, to prevent the transmission of mitochondrial myopathies from mother to child, being tested in humans.
Last year we reported promising results from research funded by the Muscular Dystrophy Campaign at Newcastle University that showed that it might be possible to prevent mitochondrial diseases being passed from mother to child. The technique is called "nuclear transfer" and it entails the transfer of DNA from a fertilised egg that carries malfunctioning mitochondria into an empty donor egg that has healthy mitochondria. This results in an embryo that carries 99.9 % of the genes from its parents and less than 0.1% of the genes from the donor egg.
The researchers have carried out a number of further pre-clinical tests and are now preparing to move this promising technology forward into clinical trial. The law currently, however, does not allow embryos that have been modified in this way to be placed back into a woman's womb and this would prevent the breakthrough from benefiting families affected by mitochondrial disease..
The 2008 amendments to the Human Fertilisation and Embryology Act allow the Secretary of State for Health to overturn the ban within the current legislation. Given the sensitivity of the issue, the Muscular Dystrophy Campaign understands the reasons for Health Secretary, Andrew Lansley's request to the HFEA to review the new scientific developments and we would impress on the regulators that is completed without delay.
It is unfortunate, however, that the proposed panel selected to review this issue comprised of scientists alone. There is no patient representative, despite patients ultimately bearing the related risks and given the complexity of the moral and ethical issues involved. In order to conduct a fair and relevant review, we believe dialogue must be opened up between the scientific and patient communities and would urge the Health Secretary to request the inclusion of a patient representative on the panel that will decide whether this treatment is allowed to move forward into clinical trial.
Dr Marita Pohlschmidt, Director of Research, said:
"Mitochondrial disease is a devastating condition which puts a lot of pressure on affected families to decide whether to have children or not. No treatments are currently available and it is extremely difficult to give families genetic counselling on how severe the child will be affected due to way these conditions are inherited.
This new research development is very exciting as its use might break through the cycle to pass the disease from generation to generation. If this new technology proves successful it could become the effective treatment the families are hoping for as it will give them the choice and opportunity to have healthy children."It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle disease. Donate now and help change the lives of thousands of people living with muscle disease.
