A young boy suffering from a condition described as a combination of Alzheimer’s and Pakinson’s disease hopes for a miracle after clinical trials for a drug to treat his condition were aborted – leaving him reeling .
Leo Vauclare, 6, suffers from infantile neuroaxonal dystrophy (INAD), a condition caused by missing enzymes in a person’s body or a dangerous buildup of iron. He was diagnosed at the age of two.
Rare diagnosis affects only about 150 children worldwide, Vauclare’s parents said Insiderand its rarity also means few options for treatment are available.
One option emerged for the young child, and he took part in a trial of a drug believed to be able to treat his rare condition. Unfortunately, the company running the trial went bankrupt and shut down. His condition was too advanced to re-enroll later.
With few options left, Vauclare’s parents, his mother Deborah and father Antoine, and young sister, Eva, are hoping that something will come to treat him before he probably dies at the age of six years.
Leo Vauclare (pictured), 6, suffers from infantile neuroaxonal dystrophy (INAD)
The disease that affects Leo (pictured) usually leads to death within five to ten years of the child’s diagnosis
“We’re not trying to say ‘poor boy’ in front of Eva,” Deborah Vauclare, 41, told Insider.
“But it’s something we often say because the life he leads is unimaginable.”
The family is from New York, but currently lives in France. Deborah says that Eve has become something of a helper for her brother, but is not sure exactly what difficult situation her brother is in.
“She’ll kiss him and help me if his head falls… she doesn’t understand because she’s only 3, but she likes to be with him,” she explained.
He first started showing signs when he was 14 months old. His parents noted that he had poor balance and that he was missing some crucial milestones in speech development.
Care from therapists and routine tests have failed to detect the condition. In 2018, he did a genetic test that revealed his INAD diagnosis.
Leo’s (left) parents say his younger sister Eva (right), 2, has acted as his helper, even though she doesn’t know exactly why her brother is sick
Leo’s family (pictured) enrolled him in a drug trial for a potential INAD treatment candidate, but it was cut short after the company went bankrupt in 2021
The National Institutes of Health describes the condition as a rare neurological disorder that affects the axons of the brain.
It causes the affected person to slowly lose their eyesight, mental skills and muscle control – hence it is compared to Alzheimer’s and Parkinson’s disease.
The disease often appears within the first two years of a child’s life. The basic causes are unknown.
There are also no cures or treatments available that can slow its progress over time.
“We thought, ‘How can this be?…How can our child – or any child for that matter – have this life, which isn’t really that big a life?’” Deborah said.
Deborah was pregnant with Eve when Leo was diagnosed with INAD, leaving the family concerned that their unborn child would also be affected with the condition — with doctors estimating a 25 percent chance.
‘I was a complete wreck… I couldn’t sleep. I couldn’t eat and felt nauseous with nerves all the time,” she described.
Testing on Eve before she was born showed she would likely be healthy, though a relief for the family.
The family joined forces with the INADcure Foundation in an effort to find a cure for the condition.
The family launched a foundation for Leo, hoping to raise money to develop a gene therapy treatment that could halt the progression of INAD
Leo’s mother Deborah (center) fears that even if treatment is developed, it will be too late to save her son
Subsequently, the Bisous for Leo – kisses for Leo in French – campaign was launched. In the months following his diagnosis, the young child was also enrolled in a drug trial for a promising treatment candidate for the condition.
In 2021, the company conducting the trial ran into financial difficulties and filed for bankruptcy, halting the trial.
When his family tried to enroll Leo in a follow-up study, they were told that his condition had deteriorated so much that the drug would hurt him more than it would help.
His family says he is barely aware of his surroundings anymore. He needs a feeding tube and uses a molded seat that supports his body and keeps him upright.
The foundation probably needs about $7 million to launch a new gene therapy treatment for the condition, but even if the money comes, it may be too late for Leo.
“They say it will be ready in 18 to 24 months…will he be eligible for the trial? Does he have 18 to 24 months to live?’ said Deborah.