Ireland is at the centre of a critical supply chain to treat children with a devastating and often fatal inherited condition.
US company PTC Therapeutics has developed a gene therapy to treat a ultra-rare condition called aromatic L-amino acid decarboxylase (AADC) deficiency where an infant’s failure to produce sufficient dopamine and serotonin leaves it failing to develop basic cognitive and motor skills.
There are about 350 recorded cases of the condition though researchers suspect that is in part due to lack of familiarity with the condition and the difficulty in diagnosing it.
“This is a fatal, rare genetic disorder which causes severe disability and suffering from the first months of life,” says Gabrielle White, head of supply chain & logistics at PTC. “It impacts the creation of dopamine and, as a result most children will never be able to hold their head up, they will never be able to sit by themselves, stand, feed themselves or indeed speak.”
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The PTC drug, called Upstaza, is the only known treatment.
It does not promise to be a full cure but, in Ms White’s words, “it can be the closest thing for this type of disease and can help moderate and improve the quality of life and the fatal nature of this disease”, allowing the children affected to live independent lives.
But to do its job, it has to be infused into the brain of the patient who might be as young as 18 months old. And, until then, it has to be kept in extremely cold conditions – below a temperature of -65 degrees.
Cold chain supply is not that unusual these days. People thinking back to the early days of the Covid pandemic will recall one of the perceive drawbacks of the ultimately very successful Pfizer vaccine was the need to keep is at a temperature of around -20 degrees as its was transported to clinics.
But, even by those standards, Upstaza is special.
“The concept of ultra-low temperature handling is a very different sphere to operate in even within the normal complexity of the pharmaceutical world, ultra-low temp is another level,” says Grainne Hughes, vice-president of business support operations at Almac Pharma Services.
When PTC was looking for a partner to design the supply chain for the new drug, Almac was a natural choice. Having worked with the first gene therapy released in Europe, it had developed a cold chain centre of excellence at a plant in Dundalk.
PTC’s international headquarters housing its supply chain and logistics team among other functions is based in Dublin. And the two had worked together on other medicines over the previous decade.
Given that history, when Upstaza got its first approval from the European Medicines Agency in June 2022, it made sense for the two companies to work together – and with cold chain logistics specialists World Courier, The challenge? To develop a fail-safe process for getting the drug from its US manufacturing site to patients at the handful of hospital around Europe with the specialised teams of neurosurgeons capable of carrying out the procedure on time with no excuses.
“Everybody in this process always have that end point of this child who is going to get this treatment and it is going to be absolutely life changing for them and their family,” said Ms Hughes.
As the drug was different from anything that had come before, the plan had to be pieced together from scratch. While the therapy itself is not manufactured to order, its packaging and labelling is. And applying a label to something stored at -65 degrees either in the freezer or in a cradle of dry ice is a very particular.
Ms Hughes outlines some of the issues, including complexity around the design of that label, finding a material that will reliably stick to a vial taken out of a -80 degree freezer.
“The operation takes place under a stopwatch process – 45 seconds, that’s all they have. Every time they label a vial, there are two operators: one with a stopwatch and one doing the labelling,” she says.
“Each procedure is treated as a project, not a production line,” Ms White says. “We are already getting ready for a treatment in November: it is now August and that is the type of work that will go into the readiness from the treatment centre right back to when we actually have to ensure we have everything assessed from a supply perspective.”
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