In 2021, AFTD hosted an Externally Led Patient-Focused Drug Development (PFDD) meeting. Established by the U.S. Food and Drug Administration (FDA) in 2012, PFDD meetings ensure that the experiences of people impacted by specific diseases are incorporated into the FDA’s decision-making on drug approval. During the 2021 AFTD-hosted meeting, people with lived experience of FTD repeatedly told the FDA about the importance of accurate and timely diagnoses:

“After she had cognitive testing, her doctor said, ‘Nothing was wrong.’ Yet, she was prescribed Namenda and Aricept.”

“Diagnosis took a couple of years and ranged from generic stress to menopause-related anxiety and depression, during which time her symptoms remained untreated and continued to become more extreme.”

“Early diagnosis is what’s really helped us. And then he was enrolled in a clinical trial with a drug that really brought back his sense of humor, his ability to be affectionate.”

“She did receive a diagnosis, but it was already at the later stages of FTD…It’s similar to what other people have said, really. It took us a long time to get a diagnosis. And by the time she did, we were basically told that there’s not a lot you can do now, other than good luck.”

FTD, with its heterogeneous symptoms that can mimic a host of other disorders, can be difficult for healthcare professionals to diagnose, with the average diagnostic process taking 3.6 years on average, with visits to three or more doctors not uncommon.¹

Research from AFTD found that 44% of survey respondents reported having received an initial diagnosis that differed from FTD, including Alzheimer’s, Parkinson’s disease, anxiety, depression, or bipolar disorder, as well as menopause or mid-life crisis.² In addition to causing families’ frustration and stress, misdiagnoses also mean that people with FTD are deprived of appropriate supportive care and may be receiving interventions that are contraindicated for FTD. Medication approved for Alzheimer’s disease, for example, can be ineffective or even exacerbate cognitive and behavioral symptoms when given to someone with FTD pathology.^3,4

With the emerging availability of FTD clinical trials, accurate diagnoses are even more critical. Current clinical trial options for people with FTD include symptomatic as well as disease-modifying therapies, spanning the spectrum of FTD clinical phenotypes. If clinical trials enroll people with the wrong diagnosis and underlying pathophysiology, researchers cannot determine if treatment effects, or lack thereof, are due to the intervention or to the heterogeneity of the participant pool.

This issue holds true across dementia research. According to Dr. Jeffrey Cummings of the Cleveland Clinic, “up to 25% of families have been told their loved one has Alzheimer’s disease, and they don’t…which also means that up to 25% of people participating in some type of clinical trial don’t actually have Alzheimer’s disease.”⁵ In a rare disease like FTD, where researchers recruit much smaller sample sizes, individual variability has a significant impact on the data. Many current clinical trials are focused on FTD caused by specific genes or on the underlying pathophysiology, underscoring the importance not only of an accurate clinical diagnosis, but of genetic status and potential pathology as well.⁶ Further, for people to feasibly participate in clinical trials for FTD, their FTD diagnosis must be made early on in disease progression. Many people report that by the time a diagnosis was received, their loved one’s FTD was too far progressed to make research participation possible.

There are, therefore, a number of reasons that timely access to accurate FTD diagnoses is critical. However, healthcare professionals’ hesitancy to disclose dementia diagnoses are well-documented. The 2019 World Alzheimer Report noted that 62% of healthcare providers worldwide consider dementia a normal part of aging.⁷ A 2015 study commissioned by the Alzheimer’s Association found that disclosure rates (the percentage of persons diagnosed and families told about a diagnosis that was documented in their medical records) for Alzheimer’s (45%) and other dementias (27%) were far below those of those of other medical conditions, including cancer (84-96%) and Parkinson’s disease (72%).⁸

Fortunately, there are tools to aid clinicians in the accurate diagnosis of FTD. While there is no single diagnostic test, diagnosis typically includes a medical history and neurological examination, neuropsychological testing, neuroimaging, and blood tests. As a significant subset of FTD is caused by autosomal dominant genes, healthcare providers should consider genetic counseling for persons with suspected FTD. In addition, natural history studies are uncovering promising neuroimaging, serum, and CSF biomarkers that may soon have diagnostic utility.^9,10 Finally, it is critical to communicate FTD diagnosis in a manner that can be understood by both the person with FTD and their family. Consider a person-centered approach to such disclosure, one that includes building rapport, tailoring your language, involving the care partner, and following up to ensure the family understands the information you provided.^11,12