Call for people with Cystic Fibrosis who have rare genes to access trials of life-saving therapy
Some people with Cystic Fibrosis still do not have access to the life changing modulator therapy drugs
A concerned group of parents are calling for individual trials of the modulator therapies for their children with Cystic Fibrosis who still do not have access to these highly effective medications.
In 2020, the European Medicines Agency (EMA) approved the roll-out of the modulator therapy Kaftrio in Ireland by Vertex pharmaceuticals. This authorisation covered over 900 gene variants and since then has extended to benefit more people with CF including 35 children with CF who were denied access in 2022. However, there remains a group of people whose CF is caused by a rare gene variant, who do not have access to these therapies.
Currently, marketing authorisation for medications like Kaftrio is granted using genetic variant based evidence. This relies on sufficient data being gathered through clinical trials. However, for people with rare genes that cause their CF, this data does not exist as their genes are too rare.It is impossible to conduct the necessary clinical trials, fulfilling all research requirements for this group.
Louise Patterson from Wicklow and Abilash Kumar from Donegal are two parents of the group whose children with CF have rare genes. The group, supported by Cystic Fibrosis Ireland, believe the only solution for people with CF like their children is for the EMA to reconsider their policies and allow individual trials of the therapies, led by their clinical teams.
According to published research, real world studies in France, the United States, and Israel have shown that Kaftrio may benefit up to 50% of pwCF who have a rare gene variant.
“Aaron has a rare gene which means he is excluded from this therapy. Currently in Ireland, only gene variants proven to be responsive to the drug in clinical trials in patients rather than lab based testing are eligible for Kaftrio. Aaron’s gene has not been included in a clinical trial to date as it is so rare, so he can’t access it” explains Louise.
In the past two years, Aaron has taken part in the HIT CF research study in Utrecht which aims to provide better treatment and better lives for people with CF and rare mutations.
“Taking part in HIT-CF study has shown that Aaron would benefit from Kaftrio, once administered in conjunction with other medication. Crucially this is only in lab trials not in real world studies and so the Irish system doesn’t recognise it. Even Vertex, have now recognised the potential benefits and have listed his gene type for the next generation of modulator therapy. But as long as the Irish system remains as it is, he will not get access to this treatment which could change his life,” Louise explains.
Abilash Kumar’s daughter is 8 years old and lives with CF. She has a rare gene variant and has regular admissions to hospital which is 255km from their home. These can last for up to 14 days at a time.
“We don't think of anything other than my daughter's treatment and routine. Trying to manage work, family, education and my daughter's medication and physio is overwhelming. And every day without treatment, CF is damaging her lungs – damage which cannot be undone,” Abilash explains.
A third parent* from the group explains what daily life is like for their child and why they are calling for the EMA to make this change.
“There is urgent need for broader access to Kaftrio. My child constantly feels unwell. Their daily routine is dominated by two hours of physiotherapy, nebulizers, antibiotics and treatments, leaving little room for the carefree activities someone this age should enjoy. The illness also severely limits their social life - no overnight stays with friends or spontaneously going out for the day due to the extensive medical equipment and treatments that must be managed.
“Then there is the impact on education. My child is a very good student and becomes upset and embarrassed that they miss around two months of school every year due to hospital admissions. It is heart breaking to watch their condition progress while knowing that there is a treatment available that could make a transformative difference.”
According to the group, the EMA have the power to grant their children and others in their situation a chance at improving their health, stop the irreversible damage caused by CF and offer a different future. They are calling for the children’s clinical teams to be allowed to undertake an assessment of the treatment’s efficacy for each child, and for the children to have access to these drugs if they are found to work.
For now, Louise explains that time is not on their side.
“Time is precious. Aaron’s health is deteriorating, and every day without access to the medication that could slow his decline, feels like an eternity,” Louise shares.
“The evidence is clear – this can work. This is a call to action—an urgent plea to the EMA for compassion, for fairness, and for access to life-saving medicine that could give Aaron, and others like him, a fighting chance at a future they deserve.”
ENDS
