Archives November 2024

Michele Howerter, whose mom Nancy is living with primary progressive aphasia, is sharing her family’s story for Giving Tuesday – a day to recognize and support mission-focused organizations worldwide. AFTD will once again participate in this annual campaign to raise awareness of FTD and funds to drive our work on behalf of all facing this disease.

Read more about the Howerter’s journey below, and join us next Tuesday, December 3, by visiting our Giving Tuesday page and following us on Facebook, Instagram, TikTok, and X to share your own experience and hear from others who choose to tell their story. Together, we are empowered to #endFTD.

“When my mom decided in 2018 – rather unexpectedly – that she wanted to move to Florida, away from her grandchildren and close friends, it should have been a red flag for us,” says Michele. “We all made excuses for the changes we were seeing.”

While in Florida, Nancy, who had been active in her Peoria, Illinois community, became increasingly withdrawn and less empathetic. Initially receiving treatment for depression, Nancy was eventually diagnosed with PPA in 2022 at age 71.
“My mom’s diagnosis came right before the AFTD Education Conference in St. Louis – I knew I needed to go. While it was overwhelming at times, it is helpful to be among others who know what you’re going through.

(L to R): Donald, Nancy, and Michele at AFTD’s 2024 Education Conference

Today, Michele’s parents live with her in Illinois, where the family helps care for Nancy. They find empowerment by navigating FTD together – traveling to AFTD’s Education Conference in Houston, participating in support groups, and attending webinars.

“FTD is a rollercoaster, but I would encourage people to build a support network and be honest about needing help as a care partner – there’s no shame in that,” says Michele. “AFTD helps connect people to others and now I want to do what I can to help raise awareness in the community.”

Nancy with her husband Donald

Join AFTD this Giving Tuesday

This article was written by a person with FTD to highlight the challenges of dealing with the holidays with an FTD diagnosis. AFTD hopes care partners and those diagnosed can benefit from the perspective presented here.

By Cindy Odell, former Council member

All holidays can be stressful for anyone at any time. It doesn’t matter if you have FTD or not. However, when you do add FTD into the mix, this is what you get:

Holiday Madness!

It was the Christmas holiday about 10 years ago when it became clear that there was something going on with me beyond the normal exhaustion the holidays bring. Shopping for those perfect gifts, baking dozens of cookies, decorating the house, and sending cards had all become chores instead of the holiday joys I had always experienced. I suspect many people reading this will say, “Oh, me too!”

I wanted to continue participating in the holiday activities I loved. I just couldn’t do it.

So, we started to rethink how our family traditionally celebrated each holiday. My husband contacted family and friends and suggested we all cut back. When some pushed back, we insisted. After all, we all spent too much money on gifts, meals, and celebrations. It helped that I enrolled my husband in reaching out to family and friends.

The best part of that strategy was that I never once had to say, “I CAN’T DO IT!” Dinners became platters or easy soups. No one went away hungry, and many, when leaving, said, “This was a great idea!” When the next special day came up, we even suggested a buffet restaurant.

The next step in our plan was to ask for a volunteer to host the next family get-together. This became easier with each holiday that passed. And as each get-together wound down, I would ask, “Who will sign up to do this at your home next year?” It wasn’t just Christmas, Hanukkah, or Kwanzaa. It included all the religious holidays, along with Thanksgiving, Mother’s and Father’s Day, Fourth of July, and every other occasion.

As my FTD worsened, we found it necessary to stop hosting any of the family get-togethers. While we would have truly loved to continue being the family hosts, the stress would have taken a huge toll on me, my husband, and so many others. If we had not spread the privilege amongst family and friends, I believe my FTD progression would have sped up with each event. But because of the few years we spent cutting back, the transition was easy.

AFTD has resources to help those affected by FTD to manage the holidays:

AFTD Board alumnus, Steve Bellwoar, has raised more than $1 million to drive AFTD’s mission in memory of his mother. Patricia “Trish” Bellwoar died in 2021 after living with FTD for nearly 30 years.

Since Steve’s initial Colonial Electric Food for Thought gathering in 2014, the event, which features a nine-hole golf tournament, cocktail hour, seated dinner, and program focused on raising FTD awareness, has grown steadily to become a community mainstay. Not surprisingly, the event’s annual supporters begin asking Steve about the event well in advance.

Reflecting on his family’s long-standing association with the organization, Steve recalled that his father was referred to AFTD for support following Trish’s diagnosis. “She was misdiagnosed at first. My mom was, as almost everybody is, initially diagnosed with Alzheimer’s.” With assistance from the AFTD HelpLine, however, Steve’s father found guidance to help the family care for Trish.

Getting Involved with AFTD

It did not take long for Steve to become involved in furthering AFTD’s mission. While attending AFTD’s 10th-anniversary celebration in 2012, where he connected with then-Executive Director Susan Dickinson (now AFTD’s CEO), Steve was inspired to volunteer and fundraise on behalf of the organization.

By 2014, Steve had joined AFTD’s Board of Directors and was preparing to host his first fundraising event, which ended up raising nearly $22,000. Today, Steve’s event raises more than $100,000 each year. “We have a lot of people who are supporting [us] in memory of my mother and father, who founded [Colonial Electric] in 1972.”

Building Connections to End FTD

In addition to commemorating Trish, Steve and his family see the annual event as an opportunity to build connections with others who are affected by FTD, educate people about the disease, and raise funds. “We’ve got to drive awareness, advocacy, and investment – those are not easy things to do for a rare disease because there isn’t the notoriety that other diseases like Alzheimer’s or cancer have,” he says.

Still inspired to improve the journey for others and bring an end to the disease, Steve plans to continue hosting the event for the foreseeable future. “There’s a lot more work to do with brain diseases in general – we would all love it if there could be a treatment or a way to prevent FTD from happening. In the meantime, we’re helping the families who have been unfortunately stricken with this terrible disease.”

After more than a decade of hosting fundraising events, Steve happily shares advice with others who may be thinking of hosting their own fundraiser. “I think the best tip given to me was that people do it to help you personally.” Indeed, he attributes much of his success to following up directly with people he’s invited to say, “Hey, this is a great organization; they do great work.”

On behalf of AFTD and the community we serve, we would like to extend a huge thank you to Steve, the Bellwoar family, Colonial Electric, and their supporters who have come together every year over the past eleven years to make an indelible impact on furthering FTD awareness and our mission.

Shana Dodge, PhD, AFTD’s Director of Research Engagement and Meghan Buzby, MBA, AFTD’s Director of Advocacy and Volunteer Engagement attended the National Organization for Rare Disorders (NORD) Breakthrough Summit, held October 20-22 in Washington, DC. NORD is an advocacy organization dedicated to individuals with rare diseases and is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. In the United States, a rare disease is one that affects fewer than 200,000, which includes FTD. The Summit included presentations and conversations between people impacted by disorders, patient advocacy groups, academics, drug developers, and government representatives. The theme for this year’s Summit was Equitable Access to Innovation, the idea that scientific advancements should benefit all people. Many sessions, including a conversation between Dr. Robert Califf, FDA Commissioner, and Dr. Meena Seshamani, Deputy Administrator and Director of the Center for Medicare, Centers for Medicare & Medicaid Services (CMS), focused on how to make medical innovations, such as cutting-edge gene therapy, more accessible and affordable for all.

Learn more about NORD by clicking the link below.

National Organization for Rare Disorders

South Korean biopharmaceutical company GemVax & Kael announced in late October the results from its phase 2a clinical trial evaluating a drug for PSP. While the drug failed to show significant efficacy, the results showed enough promise that the company is proceeding to phase 3 trials.

PSP, or progressive supranuclear palsy, is an FTD disorder primarily associated with movement symptoms. PSP has several known subtypes, such as the most common forms, PSP-Richardson’s syndrome (PSP-RS) and PSP-Parkinson’s (PSP-P). Like the fellow movement-based FTD disorder corticobasal degeneration (CBD), PSP is primarily associated with dysfunction of the tau protein, which causes it to form abnormal accumulations in affected areas of the brain.

Prior research on GemVax’s drug, GV1001, found it reduced disease-associated forms of tau in mouse models of Alzheimer’s disease. In the phase 2a trial, which was comprised of people with PSP-RS and PSP-P to participate, participants randomly received a .56 mg dose, a1.12 mg dose, or a placebo administered via injection once weekly for one month, followed by 2-week intervals for five months. The endpoint of the trial — a measurable outcome that helps determine if the intervention being studied works — was whether GV1001 impacted disease progression in the test groups, as reflected by a lower mean PSP-Rating Scale score than that of the control group.

According to GemVax, participants in all three groups experienced disease progression, though there was a 48% reduction in progression for the .56 mg group. While a statistically significant result has not been demonstrated, the results show promise for GV1001 as a treatment for PSP.

Point increase in the mean PSP-Rating Scale score per dose:

• .56 mg dose = 2.14 point increase.
• 12 mg dose = 6.46 point increase.
• Placebo dose = 4.10 point increase.

When reviewing the differences in scores between people with different PSP subtypes, GemVax said that people with PSP-RS had significantly lower PSP Rating Scale scores than the control group. The mean increase of the PSP-RS group’s score was .25, a 95% decrease in disease progression compared to the 4.10 increase of the control group. The company noted that PSP-RS participants experienced stabilization of their symptoms or even improvement of their symptoms during the trial.

In addition to showing promising results, the safety data on GV1001 was consistent with previously gathered data. Researchers noted no serious adverse effects, and the drug generally well tolerated by participants.

“This Phase 2a trial was an exploratory study to determine the optimal dosage and find out how the peptide works on different subgroups,” said GemVax CSO Hyungsik Moon. “Although the topline result did not achieve statistical significance, the evidence is strong enough to consider moving forward to a pivotal trial and shows potential to develop GV1001 as the world’s first treatment option for PSP.”

Presenting trial findings at the Neuro2024 PSP and CBD International Research Symposium, GemVax received positive feedback from experts in attendance. Scientists from industry and academic organizations expressed excitement about the drug entering phase 3 trials.

“This pilot study was not fully powered, and the treatment duration with 6 months was short,” said Peter Schüler, MD, Senior Vice President of Drug Development at global CRO ICON. “Thus, statistically significant confirmatory results could not be expected. Nonetheless, the observed trends are very plausible and consistent in two domains: motor performance and cognitive function, both favoring the lower dose group. The trial identified the optimal dose, which was one of the primary objectives of the Phase 2a study, and demonstrated clinically meaningful benefits, namely full stabilization of the disease compared to the placebo group.”

While GV1001 showed enough potential to proceed to the next clinical trial phase, not all studies do. Even when trials end unsuccessfully, however, as when Wave Life Sciences discontinued their clinical trial for genetic FTD in 2023, they can further FTD science and provide crucial insights into the interactions between different interventions and FTD disorders. Wave Life Sciences provided insights into using a specific type of drug known as an antisense oligonucleotide.

Dear HelpLine,
I am thinking of traveling to see family this year for the holidays, but this would be the first time taking my wife since she was diagnosed with FTD 2 years ago.  Is there anything you can share with me about traveling with someone with FTD?

For many people, the holiday season is a time for celebrations and gatherings. It can be a time filled with many different emotions including joy, happiness, sadness, and stress. However, planning ahead can be a helpful step in reducing stress and can foster a safe and enjoyable experience for all involved. There are some key considerations to keep in mind when planning around the holidays and traveling with a loved one who has been diagnosed with FTD. AFTD has developed a resource providing travel guidance for families affected by FTD, which can be downloaded using the link below:

AFTD Travel Resource

It can be helpful to consult with your loved one’s medical team in advance of travel to discuss any concerns you and your loved one may have. Keeping a log of details about behaviors your loved one living with FTD may experience can help with identifying patterns and how to approach various situations. AFTD developed a behavior tracker that can aid in identifying these patterns, which can be downloaded using the link below:

AFTD Behavior Tracker

Prior to traveling with a loved one living with FTD, research accommodations and accessibility options such as the Hidden Sunflower program available at many airports. You can also consider consulting with a travel agent who can assist with navigating accessibility options and accommodations during travel.

For some, travel can be stressful. When planning ahead for travel, consider potential stressors and ways to reduce stress. For example, if noisy environments are upsetting for a person living with FTD, noise-canceling headphones may be helpful in reducing stress. Be prepared for changes not only in travel plans but also in your loved one’s needs during travel. Unfamiliar environments and changes to routines can be stressful to navigate for someone living with FTD. Providing familiar comforts such as snacks, electronics, or music may be helpful in managing stressful situations. Having additional help and support from others can also be beneficial. While considering how to reduce stressful situations for your loved one, self-care is also important to remember.

Consider what is helpful to you in reducing your stress as well. You won’t be able to plan for every scenario, but it can be helpful to have some tools in your kit to reduce stress where you are able. It’s important to keep in mind that plans may not go exactly as expected and that is ok!

FTD care partner support groups can also be a helpful space for suggestions, support, and resources when navigating holiday travel. You can search for local and regional FTD care partner support groups in your area using AFTD’s Find Support page.

Find Support Near You

If you are unable to find a group in your area or if you need more assistance in finding an option that works for you, contact the HelpLine at 1-866-507-7222 or [email protected]. The HelpLine is a resource for both care partners and those living with FTD in navigating support, information, and resources.

Earlier this year, the biopharmaceutical company Alector announced that the U.S. Food and Drug Administration (FDA) had granted a “breakthrough therapy designation” to latozinemab, the company’s investigational drug designed to address FTD caused by a variant in the GRN gene. The special designation enables expedited regulatory review of therapies intended to treat serious conditions. A Phase 3 clinical trial evaluating latozinemab, developed by Alector in partnership with GSK, is currently underway.

AFTD recently spoke with Alector Vice President of Clinical Development, Lawrence (Larry) Carter, PhD, about progress being made in developing therapeutic options to treat FTD. The conversation has been edited for length and clarity.

More information about the FDA’s definition on breakthrough therapies can be found here.

What approach is your company using to treat FTD?

Our approach to treating FTD at Alector is to start by studying genetic forms of FTD because those are areas where underlying causes are better understood than sporadic forms of the disease. For example, FTD-GRN is believed to be caused by a loss of function variant, or mutation, in one of the two copies of an individual’s granulin gene that codes for the progranulin protein. If one of those genes does not produce normal levels of progranulin, then that person can have approximately half of the progranulin levels they should have, which results in the development of FTD in almost all cases.

Alector has developed a monoclonal antibody – latozinemab – which is designed to bind to a receptor called sortilin and block the interaction between progranulin and sortilin, preventing the degradation of progranulin. By preventing the interaction between the two proteins (sortilin and progranulin), latozinemab has been shown to increase the endogenous levels of progranulin in blood and cerebrospinal fluid by approximately two- to three-fold in our Phase 2 study. We like this approach because it involves raising the body’s own progranulin, and only raising it to levels of what is seen in healthy volunteers without a loss of function variant, versus raising levels much higher.

We will learn from clinical trials about the efficacy and safety profile of this and other therapies that raise progranulin levels to different extents. Progranulin can serve as a growth factor and have several other functions. It is going to be important to comprehensively characterize the efficacy and safety profile of these investigational interventions, including any side effects people may experience, and changes in laboratory values and vital signs.

AFTD Note: A monoclonal antibody (mAb) is a synthesized protein designed to act like an antibody, helping to stimulate a person’s innate immune system by binding to receptors and modifying cellular processes.

Please visit AFTD’s page on FTD & Genetics for more information about genetic forms of the disease.

What do you think is the most urgent need to be addressed for people facing FTD and their families?

I really think this question is best answered by those with lived experience. One of the things we hear all the time is about the tremendous impact an FTD diagnosis has on the entire family in terms of economic hardship – It has been estimated to be almost twice that of an Alzheimer’s diagnosis – and trying to manage behavior symptoms, to name just a couple. I think AFTD is a great resource for connecting families with resources, support groups, clinicians, and research opportunities – through these interactions we can learn about the most urgent needs directly from those with lived experience.

How do you think we can empower the global FTD community to reach our shared goals?

AFTD and Alector have very similar goals with regard to empowering the community and reaching a future without this disease. The stated mission at Alector is to create a world in which neurodegenerative diseases are a thing of the past. So we also envision a future that is free of FTD. Right now, we’re very focused on our late-stage Phase 3 trial in FTD-GRN, which could support an approval for the first disease-modifying therapy specifically for FTD. In conducting our trial, we’ve tried to raise awareness of FTD, provide no-cost genetic testing options, and help people find FTD centers of excellence because we know that we are asking a lot from patients and families who are already dealing with a lot following an FTD diagnosis.

I also think that helping to make people’s voices heard – either by raising awareness within their communities or by working with regulators such as the FDA or European Medicines Agency – is necessary to help everyone better understand the condition and the unmet needs people have. Also, advocating with elected officials can really go a long way to effect change and empower the broader community. People want to hear from those with lived experience.

AFTD’s FTD Research Roundtable is another great example of how we can empower each other for shared goals. Bringing together advocacy organizations, industry, academia, and regulatory stakeholders – who all play important and complementary roles to develop therapies and improve healthcare and quality of life – for these types of meetings and conversations is extremely important. I think by working closely with one another, being transparent about our goals and our limitations, building trust with one another, and being aligned about what we’re trying to achieve is one way we can empower each other to reach shared goals.

What do you find to be the most encouraging about today’s research landscape?

This is a really exciting time with regard to all the research and clinical trials being done in FTD and other neurodegenerative conditions. There is a lot of work being done these days, building on the work done by organizations such as the FTD Disorders Registry, ALLFTD, and GENFI, which has led in part to today’s ongoing interventional clinical trials that could lead to the first approved therapy targeting FTD – that itself is very exciting.

If we are successful in treating FTD-GRN, then we will have a potential foothold and momentum that could carry over into treating other forms of FTD. Folks are starting to recognize there are common underlying pathologies to these conditions – they may manifest in different ways, but we can focus on treating the underlying causes that lead to the signs and symptoms we can observe.

A good analogy that we were just discussing over lunch at the AFTD Research Roundtable Meeting is stroke: a stroke can cause different symptoms based on where it occurs, but the underlying pathophysiology is the same, and that is what we should treat. With FTD, we can move toward thinking about characterizing the disease based on the pathology – such as TDP-43 or tau pathology – instead of trying to categorize it on the basis of behavior, language, or motor symptoms. This shift in how we think about FTD and how to treat it could enable larger clinical trials and faster development pathways for what we now consider to be different FTD phenotypes.

AFTD Note: Though many trials right now are focusing on FTD caused by variants in the GRN gene, their potential success may help treat other forms of FTD, as the disease is caused by an excessive aggregation of proteins in the brain: often TDP-43 (associated with variants in the C9orf72 or GRN genes) or tau (associated with the MAPT gene). If a drug targeting a specific genetic cause leads to reduced protein aggregation, researchers may better understand how to prevent TDP-43 or tau protein accumulations found in other genetic forms of FTD, and in people without an identifiable genetic cause.

What are the challenges you see and your hopes for how stakeholders can overcome these together?

I know that referring to FTD or FTD-GRN as a “rare disease” carries different connotations for different people, but there are real challenges when conducting clinical trials or drug development in small populations. We need to work together to do the required clinical trials and convince stakeholders, including health authorities and payers, that the benefits we hope to see in studies are clinically meaningful to patients and their families.

AFTD has been a great partner in helping raise awareness about available studies and building trust within the FTD community. Once there is an effective therapy, there will still be a need to educate families and clinicians that there is now hope – there is a treatment option where there was not one before. It will be a change to the historic narrative and that is the day I really look forward to seeing.

AFTD Note: While the Alector trial on latozinemab has completed enrollment, several other clinical trials are actively seeking people affected by FTD-GRN to test other promising treatments. Visit the Studies Seeking Participants page to learn more about trials that are actively recruiting. Signing up for the FTD Disorders Registry is another way that persons diagnosed, care partners, and family can participate in research.

AFTD is sincerely grateful for Alector’s ongoing dedication to our mission and the people we serve. If you are interested in learning more about their work, please visit their website.

Join and learn from others who understand the FTD journey at this in-person AFTD Meet & Greet event, hosted by AFTD Ambassador Shirley Gordon and Kevin Rhodes, co-chair of the AFTD Persons with FTD Advisory Council. The event will take place from 7:30 a.m. – 12:00 p.m. on November 24 at St. Catherine of Siena church in Manchester, N.H. (207 Hemlock Street).

RSVP for this event by emailing [email protected]. To learn more, download this flyer.

With primary progressive aphasia (PPA), problems with language and communication typically deteriorate gradually over time. Initial symptoms are sometimes attributed to anxiety or stress until the ongoing symptoms become disruptive enough to prompt further assessment by a specialist. This webinar is intended for clinicians to support early detection and accurate diagnosis of PPA. 

Learners will be able to:

• Describe the process for diagnosing PPA.
• Recognize the inclusion and exclusion criteria for making a PPA diagnosis.
• List common clinical presentations for PPA subtypes.