Research update on Tay-Sachs and Sandhoff disease in the UK – March 2014

Research update on Tay-Sachs and Sandhoff disease in the UK

The work into a gene therapy trial for Tay-Sachs and Sandhoff disease (GM2 Gangliosidosis) being undertaken in Cambridge has steadily been progressing. Several significant steps have been achieved since the team was awarded its grant of £2.84 million from the UK Medical Research Council (MRC) for the trial and each day brings us closer to achieving our goal of having a treatment for these diseases.

Key progress in key positions

Since our last update in 2013 (this can be read here) we have been in the position to appoint a Post Doctorate Fellow based in Cambridge who will be working with the research team. This appointment is significant as it will allow the team to focus on getting all the work together for the next stages of the trial framework.

Another key milestone is the work being undertaken is the development of the vectors which will be used to administer healthy working genes into children suffering from Tay-Sachs and Sandhoff disease. The team is currently testing three versions (although only one will eventually be used in the trial) to determine which is the most effective at this for our particular trial.

As it stands, the team are mid way through the first of three milestones and are on course to continue meeting these goals within the agreed timescale

The next stage moves us a step closer

Along with the research team, The CATS Foundation will soon be meeting with the relevant regulatory bodies to present the findings from all the work which has been completed to gain a final ethical approval for the trial. Once this has been achieved we will then be able to begin the process of determining the specific criteria for taking part in the trial.

At this moment, we are not able to state who will and will not be eligible to take part in the study. There are many factors which need to be agreed upon and careful screening will be used for eligibility. However, this study is intended for patients both in the UK and Europe.

For more information about the gene therapy trial for Tay-Sachs and Sandhoff disease (GM2 Gangliosidosis) in Cambridge please get in touch with us as we will be able to answer any questions.

As we are working closely with the research team we will also be able to respond to any technical issues issues you have have regarding the trial.

We hope you are as excited as we are about the progress which has been made. The whole process has now started to gather speed and we will be able to provide further updates in due course.

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  1. Folker Quack
    April 15, 2014

    Our five year old son affected by Sandhoff disease. The first presentation were seizures that startet at the age of 3 1/2 years. Presently, ataxia and spastic are the leading clinical signs. Our son is able to walk and to speak. We are very interested about the gene therapy trial for Tay-Sachs and Sandhoff disease (GM2 Gangliosidosis) in Cambridge. We would be very pleased, if our son could take part in the study. Besides, we are very interested in information an exchanges with other concerned parents. Particularly the juvenile case or families from Germany or Austria. We are also very interested to CATS. We would appreciate if you can help us.
    Thank you very much!
    best wishes Folker Quack

    August 31, 2014

    Our 10 Months son has been diagnosed with Sandhoff disease in INDIA.I would like to know the progress that has been made after the update in March 2014. I would also like to know how to get the regular updates regarding the progress of the research and a potential cure is found. I would appreciate if someone can help us.

    Thank you very much.


  3. Eunice Brownlee
    April 1, 2017

    Having recently discovered CATS, I wonder if there is any newer information on the “exciting research” than March 2014.

    My own daughter was included in the research, under taken at Great Ormond Street hospital, by Dr Rosemary Stevens and her team. (After so many years I hope I have the correct spelling of her surname). After Nellexa’s death in 1973 (age 2.25years) her body was donated to GOS to further aide this research.

    I admire the energy of the Cats Founders and realise that keeping a web page up-to-date can be taxing on limited time and resources, however, it would be nice to learn where the work at Cambridge is now. Eunice

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