University of Otago’s Department of Biochemistry professor Stephanie Hughes has been investigating Batten disease for nearly three decades.
She recently received the Rare Disorders Research Award at Rare Disorders NZ’s 25th Anniversary Awards.
Batten disease is a rare neurological disorder caused by a genetic defect that can manifest in children any time from about 6 months to 10 years old.
The symptoms resemble those of Alzheimer’s, with blindness, Parkinson’s, motor co-ordination issues and epilepsy.
Because of these symptoms, it is sometimes described as childhood dementia.
For those affected, the youngest are unlikely to survive to see their 8th birthdays.
While older children often live longer, they ultimately decline and require a large amount of care from family members throughout their lives.
"Normally in these cases the parents would have to give up their jobs," Prof Hughes said.
Although Batten disease was uncommon, the impact on families was devastating, children needing round-the-clock care.
"They can’t walk, they can’t talk, they can’t feed."
There are 13 different forms of Batten disease.
After spending years researching one variant, she and her colleagues began developing a gene therapy in 2008, using a disabled virus to deliver a healthy copy of the defective gene directly into the brain.
This development was possible after a farmer noticed changes in some of his sheep.
"Some sheep in his flock were not responding to dogs, kind of circled, did not flock with the rest of the sheep and were going blind."
Communicating this to a Massey University pathologist revealed the sheep had a genetic form of Batten disease.
"So we were able to use that to test our gene therapy method, which was pretty cool, because these sheep had all these symptoms that looked like the kids’ symptoms, and we could do these experiments," Prof Hughes said.
Testing on sheep in collaboration with researchers at Lincoln University showed encouraging results, as the affected sheep lived far longer than expected.
This success eventually led to a phase 1 and 2 clinical trial in the United States involving about six patients who were all treated with the drug.
Preliminary data indicates children tolerate the therapy well, but full results remain several years away.
Rare Disorders NZ hopes to aid families by developing a Centre of Expertise that would help with early and accurate diagnoses and identify gaps in service delivery.
The Ministry of Health has developed a rare disorders strategy, but it has not yet been implemented by Health New Zealand Te Whatu Ora.
Prof Hughes said Rare Disorders NZ was working hard to encourage the strategy to be put in place, "rather than just having it sitting on the table and not doing anything for anyone".
Prof Hughes is also working on helping co-ordinate scientists who research rare illnesses.
She is the inaugural director of the Otago-based Research Alliance for Rare Illness Translational Pathways (Rarity), which was launched last month on Rare Disease Day.
"Basically, what we are trying to do is educate people like me who work in the lab as to how they would take their unique finding and get it to clinical trials because there are so many steps in between," Prof Hughes said.
The hope is that stronger networks between researchers, clinicians and families will ease the burden for people living with rare illnesses and help expedite access to potentially life-changing treatments.
