‘I was hoping to feel stronger after the clinical trial – any treatments that can be developed are vital’
Covid-19 has had a massive impact on medical research charities, with trials curtailed, delayed and postponed. Ciara Maguire, diagnosed at birth with rare genetic disorder cystinosis, talks to
Regina Lavelle about the disappointment and impact of the trial cancellation
BACK in mid-March, a group of 10 or so people were all set to take a trip to Germany. They had been due to travel on a Thursday. On the Monday, because of Covid-19, the excursion was cancelled. Given the times, this was a very ordinary occurrence, except this was no ordinary trip. The group were due to take part in a clinical trial for cystinosis, an extremely rare genetic condition which attacks the organs and the muscles.
A nephrologist was undertaking a study to determine the effectiveness of neuromuscular training boards on treatment outcomes for a disorder, which can be debilitating; the outcome of the trial, therefore, potentially lifechanging.
The trial was postponed but is now underway again, however this time the Irish group has not been involved. Among those to travel was Ciara Maguire (23), a Masters student at Maynooth University.
Ciara was diagnosed at birth with the disorder, as her elder sister, Sinead, (27), is also a sufferer.
“I first saw the boards in practice at a conference in Berlin in 2018, that was when I heard about what the German group was planning,” she says.
“My sister and I are aware that adults with cystinosis suffer from muscle weakness and wasting. So we were both keen to take part in the study. I was hoping to feel stronger and feel an improvement physically.”
Patients had hoped that a successful trial
might mean approval of the boards as a treatment. As whilst cystoninis is treatable, the current regime is particularly unforgiving.
“It’s very harsh and I wake up most days feeling nauseous, I often vomit,” says Ciara.
“I also have headaches most days, there are many unpleasant side effects. However, I know it is helping so I just keep on taking 50 tablets every day, through the night too. “
Cystinosis Ireland is still trying to get its members on the study, but it has clearly been a trying episode for a small organisation.
“There’s a possibility a wing of it might take place in Dublin,” says Cystinosis Ireland Director Anne-Marie O’Dowd. “But we don’t know because it’s going to have to take place in a hospital, then people are worried about travelling and there has to be ethical approval, so it’s a much bigger deal now.”
As well as being Director and Chair of Cystinosis Ireland, Anne-Marie is also the mother of a sufferer, adds:
“Muscle weakness is a big issue for our patients, so this study is so very important. These boards have been shown to be really effective in other disease areas where there are issues around muscles, so we are really hopeful that they’ll be as effective for people with cystinosis.
“We need to get the studies going to get access to these boards because it could be a real game changer. Muscle weakness affects all muscles including the swallowing muscles which can be very dangerous and unfortunately there have been deaths. So it’s not just not about having muscles, it’s about life and death at the end of the day.”
This is a single chapter in a much wider story. For charities all over the country involved in fundraising for research and trials, Covid has been a considerable obstacle.
Not only is income down by as much as 30pc, but some trials have been curtailed or postponed, and some research delayed because of lab closures.
Figures from Cancer Trials Ireland illustrate where Covid has had an impact.
While only four trials have been paused or delayed, the amount of patient monitoring has been dramatically reduced — down 74pc on the same period last year.
Patient recruitment is also down, but at 15pc, not catastrophically.
“During the initial lockdown, clinical trials were really affected. We could not open some clinical trials. The clinical trials we had open at the time of the lockdown remained open but we could not enroll new patients to them,” says Professor Catherine Kelly, Medical Director of the Mater Hospital Clinical Trials Unit and Consultant Oncologist.
“Some of our research nurses were also redeployed to other areas of the hospital to help out with the Covid workload.”
This second lockdown, clinicians are seeking to alleviate disruption as much as possible. Professor Kelly hopes that research activity can be stabilised, despite the pandemic.
“We are trying to maintain a consistent level of activity, we have begun to open new studies. But there is a backlog in ethics approvals, because of the prioritisation of ethics protocols related to Covid-related trials.
“Covid has also impacted some of our doctors doing laboratory-based research and unfortunately most have had to suspend their projects as laboratories have been closed or access has been limited,” Professor Kelly added.
Now many trials teams are working from home and as much monitoring as possible is being conducted remotely.
Some researchers have redesigned programmes to be Covid-friendly, which could change how trials are conducted in the future.
Grainne Sheil, a researcher in exercise oncology at St James’s Hospital and Trinity College, is currently working on two major studies which both required adjustments. (One is part funded by the Irish Cancer Society.)
“Ethics approval was in place and paperwork completed on two of our largest trials, both due to start this year. Because of Covid, neither has started yet.
“One was getting people ready for surgery. We design very specific exercise programmes before surgery to get people as well as possible.
“That’s tricky as it involves people coming into hospital every day before their surgery.
“In that trial, we stopped and went back to ethics approval to make it Covid-friendly. The new trial involves participants doing their exercise at home.
“The second study, exploring survivorship, is also paused.
“That’s coming into hospital after your treatment has finished to do rehab, nutrition and exercise classes. We’ve made that programme virtual. That has been our approach — to see what we can provide at a distance to these patients.”
Trials and research don’t just require organisation, they also need funding.
Some of this is provided by charities whose fundraising efforts have been seriously impeded by Covid.
“We have about 40 charity members,” says Dr Avril Kennan, CEO of Health Research Charities Ireland, HRCI, the umbrella body for research charities.
“All of them are playing some role in research. Our members are very concerned about their fundraising income since they can’t run events,” says Dr Kennan.
For the Irish Cancer Society, the largest nonState investor in research in the country, the reduction in fundraising activities translates into a total loss of €4m.
“Daffodil Day alone was down €2m, we had to pull the plug at short notice, and we had anticipated bringing in around €4m,” says Dr Robert O’Connor, Head of Research at the Society.
“We’ve gone into our reserves and many charities have been doing that.
“We’ve been fortunate, we’ve had tremendous support from the Irish public and we’ve moved into digital more. But there’s no question that Covid has been a major disruption.
“On the clinical side, there was also massive disruption because hospital wards were moved, staff were repurposed, and some clinical trials temporarily stopped accruing new patients.
“To date, we’ve seen a fall off about a third of clinical trial activity, and while that is bad for those affected, I think cancer has probably maintained better than many other disease research areas.”
Health Research Charities Ireland has a partnership with the Health Research Board (HRB) which funds half of successful research projects — after a rigorous screening process and peer review — and the charities fund the other half.
For charities this tends to come from public donations since state grants can be sourced for patient care or patient services.
“We have this excellent funding model with the HRB to provide half of the funding but often getting the other half can be a stretch for charities,” says Dr Kennan.
“And that’s in the good times.”
Even in the good times, research charities can easily find themselves outbid in the marketplace of public compassion.
Compared to ‘Buy a bus!’ or ‘Hire a nurse!’, research can seem like quite a nebulous cause, especially since it is, by its nature, exploratory and some of it can sound quite banal.
‘Fund accurate patient registries!’ or ‘Compare similar off-patent drugs!’ doesn’t have quite the same urgency.
Facing intense competition for every charitable euro, research charities are asking those already anguished about the present to invest in the future. But these are worthwhile investments.
As Ciara Maguire says: “We all know that research is the key in all diseases but in rare diseases the onus is on groups like ours to fundraise for the scientific research as big pharma would not be interested in developing new therapies, because the patient group is too small to make it financially viable.
“This is a lifelong disease, therefore any treatments or therapies that can be developed to help us have a better, fulfilled life are of vital importance.”
Not only is income down by as much as 30pc, but some trials have been curtailed or postponed, and some research delayed because of lab closures