In the final days of his life, Lito Sousa's family undertook a race against time to import an experimental substance into Brazil intended for the treatment of Creutzfeldt-Jakob disease, a rare and progressive neurodegenerative condition.
Lito Sousa passed away last Thursday, the 1st, at the age of 59 in São Paulo. The news of his death was confirmed by both family members and by Hospital Albert Einstein, where he was hospitalized.
The substance, identified as ALN-6457, arrived from New York at São Paulo International Airport in Guarulhos in the early morning of September 12th. Subsequently, it was transported by helicopter to the Israelita Albert Einstein Hospital, located in the capital.
Details about the ALN-6457 substance
ALN-6457 is in the preclinical phase, and there have been no formal studies in humans for this prion disease. For this reason, Lito became the first person to test the compound, and its importation was released on an exceptional basis, following the compassionate use mechanism.
Lito's wife, Mila Seidl, detailed the behind-the-scenes aspects of the delivery in a video published on Lito's official YouTube channel on September 14th. She showed images of the medication's arrival at São Paulo International Airport in Guarulhos and its subsequent transfer to the hospital.
Mila reported that the week before the substance's arrival was extremely difficult because Lito's condition worsened significantly, forcing him out of home care and back to the hospital. She described the disease as something frightening and rapid, where functional capacity can change drastically from one day to the next, making every minute crucial.
The family learned that a pharmaceutical company was interested in the pilot's case and was evaluating the supply of the product under the compassionate use regime, a procedure aimed at patients with serious illnesses and no other therapeutic options. After the evaluation and approval of Lito's case, the organization of production, transport, and obtaining the necessary authorizations for the product to reach Brazil began.
Mila emphasized the urgency, comparing the disease's progression to a 'tsunami.' The family developed a plan to prevent logistical problems, anticipating that part of the product would come from Europe and another from the United States, although they initially did not know the exact origin of each component due to confidentiality issues.
One component was ready in Switzerland, leaving the country on the 10th and arriving in Brazil the next day. The second part was sent as regulated cargo on a commercial plane. However, the planning changed when the flight was canceled due to technical failure, which was critical given the limited timeframe for administering the medication.
According to Mila, it was not feasible to simply reroute the cargo to another airline because a series of specific documents and procedures had already been submitted to the airlines. Faced with this, the family contacted aviation partners to find an alternative solution. Considering the forecast of heavy rains and flooding in Greater São Paulo, including Marginal Tietê, they opted to transport the medication by helicopter from Guarulhos to the hospital.
The air taxi company provided the necessary team and managed the regulatory part at Guarulhos airport. The family had also previously arranged permissions with Anvisa and the Federal Revenue, and the Federal Police were called upon to authorize the cargo's departure. Mila stressed the importance of coordination between authorities and professionals, advising that in emergency situations, authorities should be approached through official channels with authorizations ready.
Possibilities for studies in Brazil
Mila also informed that the responsible pharmaceutical company expressed interest in conducting studies on the substance in Brazil, which could happen in the coming months, allowing access for other patients in the country. She clarified that Lito was not initially included in the studies because there were no available slots, even though he met all the necessary requirements, citing the difficulty of finding this 'entry window.'
The possibility of new trials in Brazil is considered vital due to the rare nature of the disease. Concluding her account, she expressed gratitude to everyone who supported Lito's case, as well as to the professionals and institutions involved in the medication's arrival, stating that they managed to obtain 'that 1%' with the help of many people.
It was reiterated that the exceptional rite does not establish an exclusive rule for Lito, but rather falls under the compassionate use mechanism, which guarantees access to experimental substances for patients with severe conditions and no therapeutic alternatives.
About Lito's case
Lito Sousa, at 59 years old, was diagnosed with Creutzfeldt-Jakob disease, a rare neurological condition caused by prions that currently has no treatment capable of reversing its progression. In a video released on September 4th, Lito mentioned that his chances of survival had improved and commented on aviation, a topic in which he is known.
Creutzfeldt-Jakob disease leads to progressive brain deterioration. In Brazil, the Ministry of Health has registered 547 confirmed cases between 2005 and 2021, with most patients living between six months and one year after the onset of symptoms. Currently, there is no globally approved treatment to halt the progression of the illness, and investigative alternatives remain in the experimental field.
