A multi-site U.S. study spanning 13 research sites seeks biomarkers that predict when symptoms will begin, with the aim of enabling prevention trials rather than treating illness after onset.

If successful, the effort could shift the focus from symptom management to preventive treatment strategies that intervene before irreversible brain and nerve cell damage occurs.

The project emphasizes identifying pre-symptomatic changes to inform preventative therapeutic strategies, moving from symptom treatment toward disease prevention.

Key investigators Michael Benatar and Corey McMillan coordinate across Penn and Miami, bringing together neurology, psychiatry, and neuropsychology.

Additional study details, contact information, and the NIH grant citation are provided in the article.

Researchers are unifying ALS and FTD research by integrating motor, cognitive, behavioral, and neuropsychological assessments to capture the full spectrum of C9-related disease.

The effort assembles neurologists, psychiatrists, and neuropsychologists from ALS and FTD specialties to study motor and cognitive/behavioral changes across the ALS-FTD spectrum.

A multi-disciplinary approach is emphasized to break down traditional silos and understand the full spectrum of C9-related disease through integrated assessments.

The focus is on individuals with the C9orf72 repeat expansion, the most common inherited cause of both ALS and FTD, to identify early predictors of disease onset.

A 26 million NIH-funded, five-year study led by the University of Pennsylvania and University of Miami aims to identify early biological and clinical changes in C9orf72 carriers to predict and prevent ALS and FTD before symptoms appear.

The five-year, multi-site study will investigate early clinical and biological changes associated with ALS and FTD in carriers of the C9orf72 expansion.

By identifying predictive biological and clinical changes, the study seeks to enable prevention trials and pre-symptomatic interventions for ALS/FTD.