The Broad Institute, a research center affiliated with the Massachusetts Institute of Technology (MIT) and Harvard University, said on Tuesday, August 25, that it is in contact with the team of Brazilian influencer Lito Sousa to evaluate possible treatment options for Creutzfeldt-Jakob disease (CJD), the rare neurodegenerative condition he was diagnosed with. 'We don't know if we will be able to help him, but we will try,' the institute said in a social media post, according to Brazilian magazine Exame.
The response came after thousands of Brazilians began tagging the American institute in messages of support for Sousa, an aircraft mechanic and pilot known for his YouTube channel on aviation, which has more than 2.5 million Instagram followers. On Sunday, August 23, the influencer himself recorded an English-language video, posted on social media, with a direct appeal to Ionis Pharmaceuticals, the Broad Institute, Harvard and the Mayo Clinic, asking for a spot in experimental studies on the disease, according to BBC News Brasil. In the video, international communications specialist Ewandro Magalhães summarized the case and said 'every minute counts.'
Two studies, no open spots
According to Sousa's wife, Mila Seidl, the family identified two studies as the most promising options: one linked to Harvard, testing the experimental drug ION717 developed by Ionis Pharmaceuticals, and a multicenter trial spanning research centers in France, Germany and England, reportedly at a more advanced stage of development. So far, neither is accepting new participants. Ionis Pharmaceuticals confirmed to the family that the ION717 trial is closed to new enrollments and that compassionate use of the drug cannot be authorized, Exame reported. The Broad Institute, for its part, signaled the possibility of an initial interview for Sousa to join a control group, without access to the experimental medication.
'I have a 0% chance, but if there's a 1% chance anywhere, we want that 1%,' Mila said in a video posted on social media, according to BBC News Brasil. She said her husband's condition has deteriorated rapidly, including sudden partial loss of vision. Speaking to Exame, Mila said that, as of that report, all contacts seeking treatment alternatives had been made by the family itself, without involvement from Brazil's foreign ministry, the federal government or the Health Ministry.
That account, however, conflicts with what Brazil's Health Ministry told CNN Brasil. Health Minister Alexandre Padilha said, also on Tuesday, that his ministry had formally requested Sousa's inclusion in a US experimental trial and that he and other ministry officials had been in contact with the family since the previous weekend. Padilha noted that, to date, there is no approved treatment for CJD anywhere in the world.
Why the disease is so hard to treat
CJD is a rare neurodegenerative disease, with an estimated global incidence of 1 to 2 cases per million people per year, caused by an abnormal form of the prion protein. Cristiano Aguzzoli, a researcher at the Rio Grande do Sul Brain Institute (Inscer), told BBC News Brasil that clinical trials are already testing drugs capable of reducing prion protein production before neurodegeneration advances, but developing an effective treatment is especially difficult in this case. He said the disease's fast progression, low incidence and the lack of biomarkers to identify it before symptoms begin make research harder than for more common, slow-progressing neurodegenerative diseases such as Alzheimer's. On average, the report notes, only about six months pass between the onset of symptoms and the most severe stages of CJD, drastically narrowing the window to test new drugs.