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Meg Donnell with her two children, Jude, 6, and Isla, 8. Both have Sanfilippo, a fatal neurodegenerative disease. Picture: Adam Yip/Manly Daily
ONE determined mother’s love for her two children diagnosed with a rare, deadly disease will see clinical trials of a gene therapy treatment trialled in Adelaide.
Megan Donnell says the glimmer of hope when previously there was none is the best Mother’s Day gift she could wish for.
Mrs Donnell and husband Al of Sydney set up the Sanfilippo Children’s Foundation when daughter Isla was diagnosed with Sanfilippo syndrome four years ago. Younger son Jude was given precautionary tests which revealed he also has the genetic disorder.
The lysosomal storage disorder, where cells fail to properly recycle material, affects about one in 70,000 births and life expectancy ranges from about 12 to 20 years.
There is no treatment and its rapid onset and rarity means there has been little interest from drug companies in searching for a cure.
It causes serious developmental problems and one symptom is extended periods of hyperactivity, adding further stress to family life.
Mrs Donnell said Isla, 8, and Jude, 6, are happy children and not in any pain, ‘but we know what is ahead for them without any intervention’.
“We have been desperate for some kind of intervention and if we could freeze them as they are now while research went ahead that would be our miracle,” she said.
“We were told it would be highly unlikely there would be any treatment in their lifetime due to the rapid pace of the disease and slow pace of drug development.
“But this gives us a glimmer of hope.”
Trials of gene therapy treatment are under way in Europe and the US to replace the defective gene with a corrective copy, and this week the Therapeutic Goods Administration gave approval for US biopharmaceutical company Abeona Therapeutics to conduct clinical trials at the Women’s and Children’s Hospital.
The trial will involve treatment of the human genomeSource:Supplied
The Sanfilippo Children’s Foundation partnered with Abeona Therapeutics two years ago, committing $1.3 million to the project.
Adelaide was chosen partly due to the long history of excellence in lysosomal research spearheaded by Professor John Hopwood at SAHMRI, who recommended the WCH led by paediatric neurologist Dr Nicholas Smith who has worked on other gene therapy trials.
Mrs Donnell said there is no guarantee her own children will be selected for the clinical trial, as any participants have to meet strict eligibility criteria.
“But to potentially participate in this trial is a dream come true,” she said.
“It is our one chance to access an intervention. And coming this week, it is a Mother’s Day gift like no other.”
Dr Smith said the gene therapy program delivered as a single intravenous injection to treat the whole body holds potential.
“(It) is a profound and deadly lysosomal storage disease, where most afflicted children do
not reach adulthood due to the profound central nervous system manifestations and
systemic complications,” he said.
Originally published as Glimmer of hope against rare, deadly disease