Hope for Dante

Wednesday 10th Nov

We want to raise funds for Children's Medical Research Institute's incredible work into Gene Therapy and Translational Vectorology. Please help the Institute reach each phase and give hope to families like ours.

Thank you.

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Wednesday 10th Nov

We had always dreamed of having a big family, so when Dante was born it was the best time of our lives. However, he lost a lot of weight in his first week of life, and had mild laryngomalacia (soft and floppy tissues of the voice box) that interfered with feedings. We did months of tests, but nothing unusual was discovered.

Finally, at two months of age Dante put on weight and started to develop. He raised his head and held it up more frequently. He smiled, babbled, moved and even started to follow with his eyes and look at us a lot more. We thought our little angel was going to be ok. However, this was not the case.

Close to Christmas 2019, three-month-old Dante started experiencing uncontrolled muscle spasms up to 30 times a day. We rushed back to the paediatric neurologist who ordered a Genetic Exome sequencing exam, used to diagnose genetic diseases. The exam discovered that Dante has a disease called West Syndrome, where he carries a rare genetic mutation in the SPTAN1 gene – the first registered case in Brazil.

Dante’s doctor then delivered us a devastating blow; there was nothing that could be done for Dante. Medical and genetic research was still in its infancy and treatment for Dante’s mutation would take years or even decades, time we did not have.”

A relentless search for a cure

“Some people with rare genetic diseases can be treated with gene therapy, a specialised process by which doctors deliver additional healthy genes to override genetic mutations. However, Dante’s specific mutation not only stops a damaged gene from functioning normally, but also overpowers the second healthy copy of a gene. The addition of a healthy gene would not lead to any clinical benefit.

Despite this, my wife and I never gave up on searching for possible treatments for Dante. We researched and contacted more than 200 researchers and scientists around the world. To our surprise, a Polish genetic scientist, Associate Professor Leszek Lisowski, who works at the Children’s Medical Research Institute (CMRI) and the University of Sydney in Australia, had an idea on how to deactivate the mutated gene so it cannot overpower a healthy copy of the gene. This will allow the healthy copy to restore natural balance in the cells and should lead to clinical benefit for Dante.

“Now…we finally have hope”

Now, with the immeasurable help from A/Prof Lisowski and his team of collaborating experts from around the world, we finally have hope. We see gene therapy as a chance to get Dante back on track to develop normally.

Will you please support our efforts to raise funds to kick-start this research into a gene therapy cure for Dante and the many other families in our situation?”

About the disease

West Syndrome is an ultra-rare genetic disorder, occurring in fewer than 1 in 100,000 people worldwide and is caused by mutation in the SPTAN1 gene. It is part of a group of epileptic disorder, called an early infantile epileptic encephalopathy (EIEE).

EIEEs affect newborns, usually within the first three months of life. Some of the life-threatening effects faced by children with EIEEs include intractable seizures, often over a hundred times per day; abnormalities in brain development and executive function; global developmental delay; and in some cases, premature death.

Devastatingly for patients and their families, the causes of many EIEE cases are currently unknown and hence the condition has been difficult to diagnose and treat, and impossible to cure. Although several genes have been implicated in causing EIEEs, a detailed molecular mechanism and treatment options are absent for many of them. The situation is desperate, and the answers lie in medical research.

Our research

Our work indicates that gene therapy – the use of genetic material to cure diseases – offers a promise of treatment of EIEEs. In its simplest form, it involves delivering functional copies of genes to a patient’s cells to replace missing or malfunctioning ones. Therapeutic genes can be delivered through safe viral vectors such as Adeno Associated Viruses.

We believe this research could lead to clinical benefit for patients with SPTAN1 gene mutations and West Syndrome. By using Dante’s genetic mutation as a proof-of-concept target, we aim to develop and validate a viable gene therapy, and aim to generate efficacy and safety data which could help lead to a future clinical trial.

Your donations will support gene therapy research carried out by the University of Sydney in conjunction with Children’s Medical Research Institute, with a preference for SPTAN1 gene mutations and West Syndrome. Please give generously – thank you.

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