Families with Danon disease may soon benefit from special IVF treatment

6th May 2016

Families affected by a rare disease that causes cardiomyopathy may soon be eligible for IVF treatment to ensure their babies are not affected.

The Human Fertilisation and Embryology Authority (HFEA) is looking at whether to license pre-implantation genetic diagnosis (PGD) for families with Danon disease.

The disease causes muscle weakness – including heart muscle –and can also affect mental abilities. Men tend to be more severely affected, showing symptoms in childhood or adolescence. Most also have hypertrophic cardiomyopathy, but some may have dilated cardiomyopathy. Women tend to get the disease later and develop hypertrophic or dilated cardiomyopathy more equally. People with the disease may suffer from heart failure and electrical problems.

PGD is designed to give families affected by a serious disease the chance to go through IVF and PGD if they know the gene mutation in their family causing the disease.

The technique enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF. Then only those embryos without the gene mutation are implanted in the mother’s womb.

The new application for a PGD licence comes after several have been granted in the last few years for genetic changes that cause cardiomyopathy. The HFEA has already licensed PGD for dilated cardiomyopathy families affected by mutations on the Troponin T2 gene and in the Lamin A/C gene. It has also licensed PGD for families with hypertrophic cardiomyopathy caused by mutations on the MYBPC3 gene, and for families affected by arrhythmogenic right ventricular cardiomyopathy.

Cardiomyopathy UK and the Genetic Alliance UK, a charity representing over 150 patient organisations for those with genetic conditions, have made joint submissions to the HFEA in favour of new PGD licences for families with gene mutations causing cardiomyopathy.

Before granting approval for a licence, the HFEA has to be satisfied that the mutations lead to a significant risk of a serious illness or disability.

Individual families make the application for a licence, supported by their PGD clinic. But once a licence is granted for a particular gene, other families with mutations on the same gene can proceed using the existing licence.

Members of the public can also have their say on the granting of licences.  To submit your comments, see here. 

You can also take part in a survey on the issue being organised by the Genetics Alliance.  See here.

For more about the genetics of cardiomyopathy and PGD see here and for a family’s experience of PGD, see here.