Families of SPG56 children meet

Research underway to find a cure

Two little girls from different parts of the globe who share an extremely rare and debilitating genetic brain disorder have been united by Queensland research aiming to find a breakthrough drug treatment.

Sunshine Coast’s Tallulah Whitrod, 3, and Singapore’s Alissa Lim, 2, would probably have never met under normal circumstances, but their families have come together in Brisbane as part of a study into their devastating disease, hereditary spastic paraplegia.

Researchers will analyse stem cells collected from inside Tallulah and Alissa’s nasal cavities in a quest to find a drug that halts the progression of the disease or, in a “fairyland” scenario, reverses it.

The girls inherited two abnormal copies of the SPG56 gene from both parents, resulting in a type of hereditary spastic paraplegia so unusual it occurs in fewer than one person out of every million.

Tallulah is the only known child in Australia with the “currently incurable” condition and Alissa is the only diagnosed case in Singapore.

So few children worldwide have hereditary spastic paraplegia type 56, that doctors are unable to tell their parents how the degenerative condition will progress or how long their daughters are likely to live.

They are unable to talk, walk or even crawl.

But both sets of parents say the disease has not robbed their girls of the ability to smile and experience joy. They take solace from their daughters’ giggles while simultaneously fearing for their futures.

The families first met online via a Facebook group for families of children with the same type of hereditary spastic paraplegia. They say finding the group has helped relieve the extreme loneliness they feel, as parents of children living with an ultra-rare medical condition.

Professor Mackay-Sim has been studying different forms of hereditary spastic paraplegia (HSP) since 2006 with funding from the Australian-based HSP Research Foundation. Researchers at the Griffith Institute for Drug Discovery (GRIDD) aim to find a drug that can stop the progress of Tallulah and Alissa’s disorder. If they find a hit from an approved drug, that would greatly reduce the time it takes for a human trial to be organised, given it would already have been tested for its safety in human patients.

While avoiding the word “cure”, Professor Mackay-Sim said he was confident of “finding some leads” before the end of the year.

If drug candidates are identified, they will then be validated at the University of Queensland’s Australian Institute of Bioengineering and Nanotechnology, where scientist Ernst Wolvetang is using a different process to create functioning brain tissue — dubbed brain organoids — from the girls’ white blood cells.

Professor Wolvetang said having patient-specific brain organoids would inform the researchers about how SPG56 mutations affected brain development and function. He will test potential drugs on the lentil-sized organoids, which produce electrical activity that mimics human brain waves, to see whether they improve how the tissue functions.

The Whitrods are on a mission not only to find a drug to treat Tallulah’s disorder. They hope the drug screening process being trialled in Queensland can be used to inform future research into finding treatments for other extremely rare conditions, including other forms of hereditary spastic paraplegia.

Click the image to watch the video from the ABC News website

“Rare diseases are many — about 300 million people globally live with a rare disease,” Mrs Whitrod said. “Even though big pharmaceutical companies aren’t interested in funding something that doesn’t give them big bang for their buck, the successful development of the treatments we are working on has real potential to accelerate the search for therapies to treat other types of hereditary spastic paraplegia, none of which has an effective treatment.

“I truly believe that if we can get the backing of the government and the backing of those big companies to help us to find a cure, this will be the stalking horse for many, many cures to come and help many, many people.”

The Whitrods have established the Genetic Cures for Kids Foundation and named its first project Our Moon’s Mission to help fund research for Tallulah, whose middle name is Moon, and other children with defective SPG56 genes.

Their mission has given some comfort to Alissa’s parents, Shannon and Gina, who, despite living in Singapore, considered to have one of the best healthcare systems in the world, have found little support there.

After flying to Australia and meeting the Queensland researchers studying their daughter’s disease, Mrs Lim said they had found “definitely a lot more hope” after months of doctors “not giving any solutions”.

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SOURCE: ABC News, 23 April 2022

Girls brought together by Queensland research mission into rare brain disorder hereditary spastic paraplegia

By Janelle Miles

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