Research trial could see life-changing results for Finnan
It was one simple milestone that four-month-old Finnan Boonak had missed – but it led to the devastating diagnosis of a disease so rare, he’s one of only a few hundred patients identified worldwide each year.
Mum Julia noticed the youngster hadn’t mastered rolling over and after an appointment with her health visitor, he was referred to hospital for more tests.
Once there a quick-thinking doctor suspected PMM2-CDG (Congenital Disorders of Glycosylation) – a metabolic disorder which leads to developmental delays in the brain, eyesight and movement.
Just after his first birthday, Finnan was diagnosed with the disease at our Children’s Hospital, a life-changing moment for Julia, her husband Will and their two other children.
Now 14 years later, he has become one of the first patients in the UK to be recruited onto a trial at the hospital’s Clinical Research Facility, testing an investigational therapy designed to bypass the underlying biochemical defect in PMM2-CDG.
“We’d never heard of the disease and very little was known about it because it was so rare,” explained Julia, who is sharing her story on Rare Diseases Day (28 February). “Finnan is now 15 and although he is in a wheelchair, he can walk short distances with an aid and he is strong.
“He is partially sighted and he finds simple things like switching on a light tricky, but he has developed a great sense of humour.”
The disease also affects the youngster’s blood which is prone to clotting and bleeding. Finnan also has adrenal insufficiency and requires lifelong hydrocortisone replacement to substitute what his body cannot produce. Without adequate cortisol, patients can experience profound fatigue, weakness and difficulty coping with physiological stress.
There is no cure for PMM2-CDG, but the clinical trial could be life-changing for the family.
Mum-of-three Julia, a teacher from Bromsgrove, added: “Even if this trial leads to small improvements we will be delighted. Being on this drug could potentially help him to carry out simple tasks, like opening a letter or taking money out of a wallet. It could improve his balance or eyesight – all of this would make a big difference.
“We are realistic and don’t expect him to be able to stand up and walk unaided or play football.”
Currently the trial is blinded which means Finnan (pictured as a baby right) may or may not be receiving the study drug.
Julia, who was inspired to set up the charity CDG UK to raise awareness, help other families and fund vital research, said: “We are very supportive of research and so when we heard about this trial we knew we wanted Finnan to be a part of it.
“Once the blind phase is finished, he will go on to receive the therapy for six months and hopefully we will see a difference.”
Dr Sai Santra, Consultant in Clinical Inherited Metabolic Diseases, said: "We are pleased to announce that Finnan and another patient are the first in the UK to be recruited and receive treatment as part of a new randomised controlled trial for PMM2-CDG.
“This is a significant milestone for the trial and an important step forward in advancing future treatment options. This moment reflects the hard work and dedication of our research teams, collaborators, participants and their families whose commitment makes progress like this possible. We look forward to continuing the trial and learning more about the potential impact of this investigational medicine."
For more information about the condition and the charity go to CDG Home - CDG UK.
What is PMM2-CDG?
PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity.