Apps may pave the way to free treatments. 1 person under 60 with dementia

A smartphone app could enable patients with frontotemporal dementia (FTD) to participate in clinical trials. Frontotemporal dementia (FTD) is a serious neurological disease that often develops in middle age.

Research into the disease has been hampered by problems with early diagnosis and difficulty tracking how people respond to treatments that are thought to be effective only in the early stages of the disease.

To address this, a research team led by the University of California, San Francisco is introducing a cognitive test via a mobile app to detect early signs of FTD in people who are genetically susceptible to it and have not yet developed symptoms. I discovered that it can be detected. These tests were at least as sensitive as neuropsychological assessments performed in the clinic.

This study JAMA network open April 1, 2024.

More than 30 FTD clinical trials are underway or in planning stages, including one that could be the first drug approved to slow progression in some gene carriers. Researchers hope new mobile technology will speed up the study.

“Ultimately, this app may be used to monitor treatment efficacy and replace many or most in-person visits to clinical trial sites,” said lead author Adam Stafaloni, Ph.D., a clinical neuropsychologist. (Scholar and Associate Professor in the Department of Neurology at the University of California, San Francisco and Weill College). Neuroscience Institute.

FTD is the leading cause of dementia in patients under 60 years of age, with up to 30% of cases thought to be due to genetics. He has three main subspecies, which can have overlapping symptoms. The most common cause dramatic personality changes, which can manifest as a lack of empathy, apathy, impulsivity, compulsive eating, and socially and sexually inappropriate behavior. Another affects behavior and a third affects speech, language, and understanding. This is the variant that Bruce Willis is reported to have. On rare occasions, FTD sparks an explosion of visual creativity.

FTD is not easy to diagnose

Similar to Alzheimer's disease, FTD patients are thought to respond best to treatment early, ideally before symptoms appear. “Most patients with FTD are diagnosed relatively late in the disease because they are young and their symptoms are mistaken for psychiatric disorders,” said lead author Adam Boxer, MD, endowed professor of memory and aging in the UCSF Department of Neurology. said.

“We hear from families that they often suspect their loved one has FTD long before doctors agree on a diagnosis,” said Boxer, who is also director of UCSF's Alzheimer's Disease and Frontotemporal Dementia Clinical Trials Program. “There is,” he said.

Researchers followed 360 participants with an average age of 54 years in ongoing studies at ALLFTDcenters and UCSF. Approximately 90% had data on stage. Among them, 60% were gene carriers who did not have FTD or had not yet developed symptoms, 20% had early signs of the disease, and 21% had symptoms.

Software that can detect declines in planning ability

Stafaloni and Boxer worked with Datacubed Health, the software company that developed the platform, to test executive functions such as planning and prioritization, distraction filtering, and impulse control. In FTD, the part of the brain responsible for executive functions shrinks as the disease progresses.

The wealth of data collected by the app, including voice recordings and body movements, ultimately allowed researchers to develop a new test that could help diagnose and monitor symptoms earlier.

“We developed the ability to record audio while participants participate in several different tests,” said Staff-Aroni. “We also created tests for various aspects of language, as well as gait, balance, and slow movements.”

FTD researchers say they are close to finding a treatment that could ultimately slow the progression of the deadly disease. These include gene therapy and other treatments such as antisense oligonucleotides (ASOs) to increase or decrease the production of the abnormal protein in gene carriers.

There are no plans to release this app to the public at this time, but it may be useful for research.

“A major barrier is the lack of outcome measures that are easily collected and sensitive to treatment effects early in the disease process,” Staffaloni said. “We hope that smartphone-based assessments will facilitate new trials of promising treatments.”