Novel Gene Therapy Research
A funding partnership -
with Cavernoma Alliance UK(CAUK), Cavernoma Ireland and
philanthropists with a personal connection to cavernoma -secured
over £100,000 of funding to kick-start development of a novel proof
of concept pre-clinical gene therapy treatment. This study aimed to
gather robust data, in the hope to move closer to an alternative
treatment for cavernoma.
The funding has been awarded to the UCL Institute for Women's
Health, one of the world’s leading institutes for scientific research.
The research team is led by Dr Rajvinder Karda, who specialises in
the development of novel gene therapy and RNA editing treatments
for early onset, incurable genetic diseases of the central and peripheral
nervous system.
The UCL research team, is also working in collaboration with
Uppsala University and a research team led by Peetra Magnusson,
a vascular biologist focusing on vascular malformations, specifically
cerebral cavernous malformations (CCM).
CAUK and Cavernoma Ireland helped to kick-start the project through initial funding. CAUK continues to support the work, and both organisations remain closely involved, sharing their knowledge and experience of patients to help improve care and support.
Whilst this is early stage research, with a 10 to 15 year road map before gene therapy might be available for patients, it marks an important milestone for cavernoma research. Research on this study started in 2024, and this represents the first gene therapy research to be taking place in the UK for brain cavernoma.
Fundraising Cavernoma Ireland did in June 2020 for 'Research for a Cure' has gone towards the first stage of this research.
'Cavernomas: A Randomised Effectiveness (CARE) pilot study'
Cavernoma Alliance UK and Cavernoma Ireland were jointly the two patient support groups with an official role in the CARE Trail.
The research involved UK and Ireland doctors, representing the relevant specialties at all the major hospitals specialising in decisions about cavernoma treatment.
The CARE Trail was to see if treating a brain symptomatic cavernoma with surgery (neurosurgery/Gamma Knife) - 'treatment including surgery' is more effective than 'treatment without surgery' - treating the symptoms.
A representative from Cavernoma Ireland worked on the trial as a member of the PAG(patient advisor group) from August 2021 to January 2024. She was also an observer on the Trial Management Committee.
Unfortunately Beaumont Hospital and Cork University Hospital were not set up in time before the end of recruitment date to take part.
For future research of cavernoma, we now know that it is possible to have Ireland hospital's willing to take part
What was the result? - The above short animation video is about cavernoma treatment options and what has been learned from the trial.
In April 2024 the results were published in The Lancet Neurology.
More information can be found on Cavernoma Alliance UK's website page;
https://cavernoma.org.uk/care-study/
Additional information can be found on The University of Edinburgh website;
https://usher.ed.ac.uk/edinburgh-clinical-trials/our-studies/all-current-studies/care/care-study
Current Research being done Worldwide:
https://www.alliancetocure.org/home/research-clinical-trials/current-research/
