Mila Seidl, wife of Lito Souza, told Fantástico that she is negotiating with a biotechnology company for the use of an experimental medicine.
The 59-year-old content creator, pilot and aviation mechanic revealed that he was diagnosed with Creutzfeldt-Jakob Disease (CJD), a rare and progressive neurodegenerative disease that attacks the brain.
"I can't say the name [of the company] right now, but we might be able to achieve something. Lito might be the first person to test this medicine. It has already been tested in vitro, on fish, monkeys. We are willing to take that risk and try to have a different outcome," he stated.
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What is Creutzfeldt-Jakob Disease
Lito Souza and Mila Mila Seidl — Photo: Reproduction/TV Globo
CJD is caused by a change in the structure of the prion protein, naturally present in the human brain.
For reasons that are still unclear in most cases, the protein changes shape and starts to function as a mold, causing other healthy proteins to also assume the defective shape in a domino effect.
"We all have this protein and it is there working, including with neuroprotective importance", explains Tuane Vieira, professor at the Institute of Medical Biochemistry at UFRJ.
When the protein changes, the aggregates damage neurons and cause rapid brain degeneration.
According to neurologist Adalberto Studart, from the Hospital das Clínicas of FMUSP and the Brazilian Academy of Neurology, the average survival after the first symptoms is six months, rarely exceeding eight months.
"Unfortunately, there is no curative treatment or treatment that increases survival. Current treatment is supportive to alleviate symptoms and provide quality of life to the patient", says Studart.
Causes and data in Brazil
According to data from the Ministry of Health, Brazil registered 547 confirmed cases of CJD between 2005 and 2021. The most frequent form is the spontaneous form, which accounts for 80% to 85% of cases and occurs without an identifiable external or genetic factor — the type that affected Lito Sousa.
Around 15% of cases are hereditary in origin. Acquired forms are even rarer and include contamination through medical procedures or transmission through consumption of meat infected with bovine spongiform encephalopathy, "mad cow disease." Brazil has never recorded cases of transmission of the disease through consumption of beef.
Currently, the high-precision diagnostic test (RT-QuIC) is carried out academically in the UFRJ laboratory, but is not yet part of the regular flow of exams in the Unified Health System (SUS).
Search for experimental medicine
Without conventional treatment options, Lito's family is trying to gain access to the compassionate use of drugs being tested in the United States. The measure allows patients with serious illnesses and no therapeutic alternatives to use experimental substances outside of formal clinical trials.
The influencer's wife tried to include him in ongoing international research in the US and China, but strict protocol criteria prevented entry after testing began.
"I'm not a denialist and I know it's a serious disease. But we heard from doctors that, if we can get access to the study medicines, it might be possible to pause the progression of the disease. That's why we requested support from bodies such as the Ministry of Health, Anvisa and Itamaraty", explained Mila.
Research into new medicines relies on the commitment of scientists such as Sonia Vallabh and Eric Minikel, from the Broad Institute (a partnership between MIT and Harvard). The couple changed careers to dedicate themselves to science after Sonia discovered that she inherited the CJD genetic mutation from her mother, seeking to develop therapies that could block the evolution of the prion protein.
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