New Hope for FTD: $2.1M Initiative Aims to Revolutionize Diagnosis

KING OF PRUSSIA, PA – January 02, 2026 – A powerhouse coalition of health and philanthropic organizations has awarded $2.1 million to tackle one of the most significant challenges in neurodegenerative disease: the slow and often inaccurate diagnosis of frontotemporal degeneration (FTD). The Association for Frontotemporal Degeneration (AFTD), Alzheimer's Association, Rainwater Charitable Foundation, and the Robertson Foundation have joined forces to launch the FTD Diagnostic Biomarkers Initiative, funding three pioneering research projects aimed at creating reliable diagnostic tests from blood and spinal fluid.

For the tens of thousands of families affected by FTD, a group of devastating brain disorders that typically strike in the prime of life, the announcement represents a crucial step toward ending a torturous diagnostic odyssey and accelerating the search for effective treatments.

The Agonizing Wait for an Answer

Unlike more widely known neurodegenerative diseases, FTD has long existed in the shadows, not due to its rarity, but its complexity. The journey to an accurate FTD diagnosis is notoriously long and fraught with error, taking an average of 3.6 years. During this agonizing period, families watch as their loved ones undergo dramatic and confusing changes in personality, behavior, or language skills.

The disease's heterogeneity and early onset mean it is frequently misdiagnosed. The behavioral variant of FTD (bvFTD), for example, is often mistaken for psychiatric conditions like bipolar disorder, schizophrenia, or depression. This can lead to years of inappropriate treatments and immense emotional and financial strain as families struggle to understand what is happening. The lack of a definitive biological marker—a simple test to confirm the disease—forces clinicians to rely on symptom assessment, brain imaging, and medical judgment, a process that often requires specialists who are not accessible to everyone.

"Too many families struggle for years without an FTD diagnosis, which is not only incredibly difficult for those affected, it hinders research progress," said AFTD Board Member Kristin Holloway, whose Holloway Family Fund at AFTD was essential to launching the initiative. "I’m proud to be supporting this initiative through the Holloway Family Fund to bring hope and agency to the community."

This diagnostic delay costs families precious time—time that could be spent accessing support, planning for the future, and participating in clinical trials. With a life expectancy of just 6 to 8 years post-diagnosis, every year lost to uncertainty is a profound loss.

Cracking the Code in Blood and Spinal Fluid

The new initiative aims to change this reality by focusing on the development of fluid biomarkers—telltale molecular signs of disease that can be detected in cerebrospinal fluid (CSF) and, ideally, blood. The three funded projects, each awarded approximately $700,000, share a common strategy of targeting the specific proteins that go awry in FTD.

The funded research includes:

• Nicolas Barthélemy, PhD, of Washington University, is investigating "Tau Citrullination in Biofluids as a Diagnostic Biomarker for Tauopathies." About 40% of FTD cases are caused by the abnormal accumulation of the protein tau. Dr. Barthélemy’s project will explore whether a specific chemical modification to tau, known as citrullination, can serve as a unique fingerprint to identify this FTD subtype, distinguishing it from other neurodegenerative diseases.

• Andrew Stern, MD, PhD, of Brigham and Women’s Hospital, is focused on the "Detection of misfolded TDP-43 in FTD patient biofluids." Pathological TDP-43 protein is the other major driver of FTD, accounting for about half of all cases. Detecting this specific misfolded protein in living patients has been a major obstacle. Dr. Stern's work aims to develop a test sensitive enough to find this culprit in biofluids, which would be a monumental breakthrough for diagnosis and for classifying patients for targeted clinical trials.

• Leonard Petrucelli, PhD, of Mayo Clinic Jacksonville, is examining "TDP-43 cryptic targets in FTD." When TDP-43 malfunctions, it causes errors in how genetic instructions are read, leading to the production of abnormal proteins. Dr. Petrucelli's project seeks to detect these abnormal protein fragments, or "cryptic targets," which could serve as an early warning sign of TDP-43 pathology, potentially even before major symptoms appear.

A United Front Against a Complex Disease

This initiative marks a significant moment of collaboration in the fight against neurodegenerative diseases. The partnership leverages the unique strengths of each organization: AFTD's deep expertise and community connection in FTD, the Alzheimer's Association's vast experience in biomarker development, and the strategic, results-driven funding models of the Rainwater Charitable Foundation and the Robertson Foundation.

"We have seen tremendous progress in Alzheimer's biomarkers in recent years; expanding that progress into other diseases that cause dementia - such as FTD - is an essential positive step for patients, researchers and clinicians,” said Heather M. Snyder, Ph.D., Alzheimer’s Association Senior Vice President of Medical & Scientific Relations. She noted the grants are a key opportunity to advance earlier diagnosis and track the effects of future therapies.

This sentiment was echoed by the other partners, who see biomarker development as a critical linchpin for future progress. "We are thrilled to help fund three innovative proposals on fluid biomarkers, as advancing tools for early detection of disease is one of our central goals at the Rainwater Charitable Foundation,” said Glenn Harris, Ph.D., who leads research partnerships at the foundation. He added, “Supporting programs like these may one day improve clinical trial readiness and access to FTD treatments.”

This program builds on AFTD's long-term commitment, following an earlier biomarkers initiative that ran from 2016-2020. The collaborative spirit extends globally, with the call for proposals open to investigators worldwide, encouraging a unified approach to solving this shared challenge.

Accelerating the Path to Treatment

The implications of this research extend far beyond the clinic and into the realm of drug development. The creation of reliable biomarkers is widely seen as the key to unlocking a new era of therapeutic discovery for FTD. Currently, clinical trials are hampered by the difficulty of recruiting correctly diagnosed patients at an early stage of their disease.

With definitive biomarkers, researchers can design faster, more efficient trials. They can enroll patients with the specific pathology a drug is designed to target, measure whether the drug is having its intended biological effect, and obtain clearer data on its efficacy. This de-risks the entire drug development process, making FTD a more attractive target for pharmaceutical industry investment and ultimately accelerating the timeline for delivering treatments to patients.

Planning for a second round of research grants is already underway, with a new Request for Proposals anticipated in early 2026. The goal remains clear and urgent.

“At AFTD, we are always considering how to lower barriers to diagnosis so that patients can have improved access to resources and treatments,” said Penny Dacks, Ph.D., Chief Scientific Officer at AFTD. “We look forward to the day that clinicians and families can benefit from screening tools to identify if a specialty visit is needed, followed by tools to aid that specialist in accurately diagnosing every type of FTD.”