Recent years have seen huge steps forward in the FTD research field and as we enter 2016 this first FTD talk post of the year will summarize some of those areas.
There are currently a number of small studies underway in FTD and we expect more to follow in 2016. One of the first is the study from FORUM pharmaceuticals in carriers of mutations in the progranulin gene. We will keep you updated at FTD talk about these exciting studies.
Multicentre studies – working with others across the world
The GENFI (Genetic FTD Initiative) study reported its first findings last year and has now moved into a second phase of the study with 27 sites across Europe and Canada involved. It aims to provide a platform for understanding genetic FTD, particularly those with mutations in the progranulin, tau and C9orf72 genes. Similar multicentre studies are also now underway in the US (LEFFTDS and ARTFL studies) and in Australia. Together these studies will provide unique insights into the different stages of FTD, especially the very early and presymptomatic phase.
Novel brain imaging
The last year has seen a number of initial reports of a novel type of brain imaging that visualizes the tau protein in the brain using a type of scan called a PET. These scans involve an injection into a vein of a compound which can then travel to the brain and attach itself to the tau protein. Because it is mildly radioactive, that activity can be measured in a PET scanner and produce an image of where the tau is in the brain. Little is known about how good these scans will be and 2016 should see a number of papers being published about them. The hope is that not only will they be able to be used to identify people who have tau protein in their brains during life (which we are unable to do at present) but also that we will be able to use the scans to see whether a drug aimed at removing tau from the brain is working. The time is ready to also start work on finding a compound that will attach itself to the other FTD-related proteins such as TDP-43.
Greater collaboration with other disorders
For a number of years now we have known about the overlap of FTD with other brain and nerve diseases such amyotrophic lateral sclerosis (or motor neurone disease), progressive supranuclear palsy and corticobasal syndrome (or corticobasal degeneration). However what has changed over the last few years is the increasing work being done in collaboration between these diseases. In ALS much of this has stemmed from the finding that mutations in the C9orf72 gene can cause both FTD and ALS. This has stimulated work in the laboratory that has moved forward our knowledge about what is happening in brain and nerve cells to cause these disorders.
Most people who have FTD running in their family have a mutation in one of three major genes, progranulin, tau and C9orf72. However, there are some families in whom geneticists do not find one of these three genes. We have known about some of the rarer genetic causes for some years including the VCP, CHMP2B and TARDBP genes. 2015 saw another gene to add to this list, called TBK1. We know that like C9orf72 this causes both FTD and ALS, and we think it is probably a less common cause than the main three genes, but it could well be the 4th most common genetic cause. Papers published during 2016 will tell us more about this gene.
2016 sees the next International Conference on FTD which occurs every 2 years. This August it will be in Munich and we hope to hear about the new and exciting findings in FTD research.