Ataxia UK started a partnership with CureDRPLA in March 2020 with the mission of advancing research for the very rare ataxia Dentatorubral-Pallidoluysian Atrophy (DRPLA) and finding potential treatments. With funding from CureDRPLA, Ataxia UK was able to employ a Research Manager, Dr Silvia Prades, to focus solely on the DRPLA programme. Earlier this year, we reached an important milestone towards the mission of finding potential treatments with the announcement of an upcoming experimental treatment for a person with DRPLA in the US. This is known as an ‘n-of-1 clinical trial’ because the trial is designed for a population of one person. Read the announcement here.
This n-of-1 trial is being carried out by the n-Lorem Foundation, a non-profit organisation that charitably provides experimental antisense oligonucleotides (ASO) to treat people with rare diseases that affect very few people in the US. n-Lorem has an experimental ASO specific for DRPLA which could be a useful therapeutic approach if it succeeds in reducing the levels of the abnormal protein that accumulates in people with DRPLA.
The main outcome of this trial is to prove that the ASO is safe and does not harm the individual. Clinical information is being collected to compare the progression of symptoms in this patient before and after treatment to determine if there are any improvements that could indicate that the ASO is working.
This clinical trial is possible because in the US there is a path established by the Food and Drug Administration (FDA) to develop new drugs for rare diseases that affect a very small number of people. While the FDA was the first regulatory agency to establish such framework, other countries are catching up. In the UK, a pilot consortium is being established to identify a pathway to identify and deliver experimental treatments to children with ultra-rare conditions. For more information about this consortium read this press release. Find the press release here.
While this trial is taking place in one person with DRPLA in the US, it is possible that more people from the US with DRPLA might be eligible for this experimental treatment. Ataxia UK and CureDRPLA are exploring with n-Lorem if people with DRPLA from other countries, like the UK, could also take part in an n-of-1 trial. The achievements and learning from n-of-1 trials in DRPLA, will not only benefit the DRPLA community. Other very rare ataxias which have a genetic cause and could be amenable to ASO treatments might be eligible for n-of-1 trials. While this initiative is very much in the early stages, Ataxia UK is proud to be pioneering in this field and will continue to provide updates to this community.
