Current research of gene therapy

Question

Hello,

I would like to know how the current state of research of gene therapy in the field of cystic fibrosis is?

What are the prognoses for the future, especially for newly diagnosed babies?

And if other countries are “more advanced” in comparison to Germany?

Many thanks for your answer.

Answer

Hello,

When the CF gene was discovered in 1989 one thought that a causal therapy is in reach. Today, twenty years later, there is a certain disillusion since one had to recognise that the realisation of a brilliant thought or of a perspicuous idea means to get over uncountable hurdles and that, furthermore, what is promising in a cell culture or in an animal model needs further studies for years until – if at all – it can be used in humans.

The goal to cure CF by gene therapy, i.e. by introducing an intact gene which produces a functioning proteine in the lungs of the patient, could not be reached so far.

The worldwide attempt failed first and foremost because the used transport systems (vectors) either were not safe enough regarding the health of the patients by causing inflammations and defense reactions of the immune system or they did not deliver a sufficient amount of the healthy CFTR gene. Further problems have come up by realising that the vectors could not overcome the hurdle of the mucus in CF lungs and therefore, the introduced gene did not at all reach the place of its function.

Today, there is still an intensive research regarding a gene therapy approach going on, especially in the USA and Great Britain where currently a great study is in process. It is supposed to show if by means of liposomes a safe and efficient transport of intact and functioning CFTR genes to their place of destination in the lung epithelium is possible. The results are expected for 2012.

Parallel to gene therapy, pharmacological approaches are tested by trying to activate CFTR gene products (which are basically available in the cell membrane but reduced in their function) with certain medication (potentiators). In first tests it was possible to fold correctly the gene product of the most common CF mutation F508del with so called correctors so that it can reach the cell membrane and fulfill its function there. If the effectiveness of the medication should be confirmed in clinical studies and without showing considerable side effects, this would open a promising possibility to treat CF patients individually, i.e. mutation-specific. Even if currently there is no possibility to cure CF, newly diagnosed babies do have a much better prognosis than 10 years ago since symptom oriented therapies and medication that are available today have been advanced a lot and can garantuee an improvement of quality and expectancy of life if the diagnose is made at an early stage.

I hope to have been helpful,
Best regards,
Prof. Sabina Gallati

23.06.2010