Huntington’s disease (HD) is a progressive brain disease that typically starts to show symptoms between the ages of 30 to 50, when people are in the prime of life. It’s also heritable, meaning anyone who has a parent with HD has a 50% chance of getting it. HD has historically been thought of as more common among those of White ancestry, but new data challenges this, suggesting comparable rates in Black individuals. Racial and ethnic health inequalities are well documented in North America, with Black and Latino individuals found to be less likely to receive neurological care, even when socioeconomic and insurance payer factors are controlled for. How, then, does this affect HD gene carriers?
Delayed diagnosis for Black people living with HD in North America
Until now, questions around racial health disparities in HD have received little attention, but a new study from Adys Mendizabal and colleagues from UCLA has begun to address this.
Adys and her team explored racial disparities in HD care by looking at data from over 4,000 North American HD gene carriers in the ENROLL-HD database.
ENROLL-HD is the world’s largest observational study for HD families, where people living with HD from all over the world are asked questions by their neurologist during clinic visits with the option to donate blood samples. No treatments are tested – ENROLL-HD purely aims to give researchers a better understanding of HD. It’s a collaboration between HD families, clinicians, and researchers.
Adys and her team used the ENROLL-HD database to see how much time there was between when a gene carrier’s family first noted symptoms, to when a diagnosis of HD was made. They found that, on average, the time to receiving a diagnosis was one year longer for Black compared to White individuals in North America. This fits with findings from other studies, showing that Black individuals are typically at a more advanced stage of HD when they enter ENROLL-HD compared to White individuals.
A likely underestimate
What’s more, the realities are likely worse. In the study, almost 90% of participants were White, while 3.4% were Latino, and 2.3% were Black. These proportions don’t marry up with what clinicians typically report seeing in their clinics, suggesting racial and ethnic minority groups are less frequently recruited to ENROLL-HD.
This highlights a second issue facing HD gene carriers in North America: that of under-representation in research studies. Indeed, the fact that differences weren’t seen for other racial and ethnic groups in the study is likely because there were too few such participants in the study at all.
It’s also important to consider that ENROLL-HD participants as a whole are a somewhat skewed reflection of the HD community. This means the figures from the UCLA study are likely an underestimate, and the real-world racial and ethnic disparities in HD care are probably even greater. This is because ENROLL-HD only takes place at HD Centers of Excellence, in urban and academic-affiliated settings.
It’s important to note that Mendizabal and colleagues’ study wasn’t designed to drill down on exactly what is driving this delay in diagnosis, so currently this is speculative.
The researchers couldn’t tell, for example, if it was because Black HD gene carriers delay going to doctors, or have greater delays in accessing specialist care. However, they point out evidence from other disease groups, where Black individuals have been found to be more frequently misdiagnosed, and less frequently referred for genetic testing.
Likewise, they highlight the possibility of the interaction with other sociodemographic factors, for example employment status, but had too few participants in their study to be able to explore this meaningfully. They also cite studies raising concerns of racial disparities in the stigmatization of genetic conditions.
From an ENROLL-HD recruitment perspective, they raise the possibility of unequal access to HD Centers of Excellence, a potential lack of culturally similar research staff, and data from other diseases suggesting that racial and ethnic minority groups are less likely to be invited to take part in research.
Importantly, they also point to decades of unethical experimentation in Black, Latino, and Native American communities in the United States, which has promoted community mistrust of research.
Pointers for the research community
One of the key takeaways from this study is that we need more research to really uncover the drivers behind these differences, so we can figure out how best to address them.
This is particularly important since advanced imaging scans are now being brought into HD diagnosis and stage classification – which has the potential to widen the gap for underserved populations.
In the meantime though, modifications to ENROLL-HD could help address this area by:
Expanding racial and ethnic grouping options, to more accurately capture diversity among participants. For example, multiracial or multiethnic individuals currently have no categorisation option besides ‘Other’.
Adopting a standardized recruitment approach that promotes more balanced racial and ethnic representation within the study.
Increasing the numbers of ENROLL-HD sites in under-represented areas, such as Latin America, Australasia, Asia, and Africa.
A silver lining
While the results of this study raise concern, we can also see them as a positive. In the absence of a treatment breakthrough, findings like these remind us to think outside the box and remember that there are other ways that we can seek to improve the lives of those living with HD in the here-and-now.
This study also shows the value of the time, energy, and effort that HD families put into participating in ENROLL-HD. This study is just one example of the many that use the data collected from ENROLL-HD to advance our understanding of HD, and hopefully get us to a treatment sooner.
To date, ENROLL-HD has 21,669 participants from 155 clinical sites across 23 countries. This is fantastic participation from the patient community! But this study reminds us that it’s vital that everyone from the HD community is represented, including historically marginalized communities. If you would like to learn more about ENROLL-HD or join the study, you can do so here.
We’re excited to announce that the 2024 HDBuzz Prize opened this summer, seeking to find effective communicators to help us break down the latest and greatest Huntington’s disease research! This fall (or autumn, if you’re feeling fancy, or just British to be honest) we’ll be bringing you articles written by the selected prize winners, who bring a fresh voice to HDBuzz. Read on to learn about the who, why, what, when, where, and how of the 2024 competition.
Who and why
The HDBuzz Prize sought to diversify the voices that bring you content on HDBuzz. Huntington’s disease (HD) researchers come from many different scientific backgrounds with varied training, and they don’t all interpret data in exactly the same way. Having multiple viewpoints represented across our writers ensures that HD families are getting content that spans what the HD field is thinking.
The HDBuzz prize was open to anyone with an active involvement in any aspect of HD-related research. Our goal was to find young scientists with a gift for communicating research news clearly and imaginatively.
We’re particularly keen on the fresh take that your trainees, such as PhD students and postdoctoral fellows, provide and are actively seeking researchers with clinical experience. So if that’s you, hit us up!
What
The HDBuzz Prize is an opportunity for early-career HD researchers to get involved in communicating HD science to the global community, see their work published here, and win $200 US dollars!
Public engagement is important for every scientist’s training, so apart from the cash, this would enhance the CV of any eager young HD researcher.
While at the HDF conference, we took advantage of having the ears of almost 300 of the world leaders in HD research. We announced the 2024 HDBuzz Prize, calling on young HD researchers to put their writing talents to good use and make a difference for HD family members by showcasing science in the field.
How
Applicants submitted summaries of prospective articles, detailing what they wanted to write about and why they thought it was important for HD families to know about. Then we excitedly watched the applications roll in. Those who passed the first round were invited to submit full articles and we’re excited to share those with you over the next few months!
Even though the 2024 competition is over, we’re always looking for talented writers. Whether you’re a Principal Investigator (that’s ‘head honcho’ in laboratory-speak) or an HD family member, chances are you know a young scientist with a neat turn of phrase and a gift for communication. If so, please put them in touch with us or send them to this article.
So, to all our fellow science nerds – get in touch and get cracking!
There has been a lot of buzz in the Huntington’s disease (HD) space recently with multiple updates from companies testing many different drugs in the clinic. As these drugs move closer to seeking approval from the regulators, this has raised some questions. Why are some trials held in certain countries and not others? What does it matter if a company applies to the European or US regulators? How does a drug really move from being tested in a lab to being approved for sale on pharmacy shelves? We spoke with Cristina Sampaio, MD, Chief Medical Officer at the CHDI Foundation and former longtime member of CHMP, a committee that evaluates applications to the European Medicines Agency (EMA) for new drugs to be approved to be sold in the European Union (EU). Here, we get into the nitty gritty of drug regulation and find some answers to these important questions.
Getting a drug to market
After a company has been busy in the lab and has worked with different animal models to test their drug, the next step is to begin testing their drug in people in clinical trials. Clinical trials are typically divided into Phases 1, 2, and 3. As a drug progresses through these phases, more participants are dosed for longer periods of time.
Each phase seeks to answer different questions about the drug being tested: Phase 1 is about what dose of the drug is safe for people; Phase 2 aims to work out if the drug is working and doing what it is designed to do while continuing to monitor safety; and Phase 3 seeks to confirm the effect of the drug, generally in a larger more diverse group of people, usually over a longer period of time, and looking out for possible side effects.
If a drug successfully moves through all phases of the clinical trial process, the company behind the drug will then apply to the regulators for approval which would allow them to market and sell their drug. This is the ideal outcome for companies, patients, and other stakeholders as it means we have a bigger arsenal of drugs to treat different diseases and conditions. In the case of HD, we’re hoping to soon have the first agency-approved, disease-modifying drug – what a thought!
Regulators – laying down the law on clinical trials and drug approvals
Testing new drugs in clinical trials is however a very risky business. Scientists do their utmost to make sure that new drugs they help develop are safe, effective, and could halt, slow, or alleviate symptoms of disease in humans, based on experiments they do in cell and animal models in the lab. However, there is always a risk that things might not go as well as everyone hoped when the drug is first given to people, with potentially very bad or disappointing outcomes, a scenario with which the HD community is unfortunately very familiar.
To work in the best interests of patient groups, it is important that all aspects of this process are carefully vetted and overseen by an independent panel of experts, from the very first people to be dosed with a drug, all the way to the final approval so that the drug can be made available. This is one of the roles the regulators play, helping to get drugs from the lab bench to the people who need them the most, the patient communities.
Most countries have drug regulatory agencies, although the scope, structure, and responsibilities of these agencies varies a lot. Regulators are responsible for ensuring the safety, efficacy, and quality of drugs, medical devices, and in some cases, other health-related products. All of these regulatory agencies serve different populations with different interests and needs, operating within different healthcare systems.
Regulators in Europe and the US
You are probably familiar with some of these regulators already – the European Medicines Agency (EMA) in the EU which is the central agency for approving and monitoring medicines across all 27 EU member states; and the Food and Drug Administration (FDA), which is responsible for regulating drugs, medical devices, and food safety, but is a federal agency representing the citizens of a single country, albeit a big one, the US.
As the FDA and EMA are currently the two big players in advancing HD drugs to market, they will be the focus of this article. The FDA and EMA are also two of the most important regulatory agencies in the world because of their global influence, scientific expertise, and high standards for drug evaluation and approval. This makes them key players in ensuring the safety, efficacy, and quality of pharmaceuticals and medical products in the global landscape of drug development.
However, it is important to note that there are many more regulators beyond those governing the US and the EU. This includes Health Canada (no points for guessing where they operate!), the National Medical Products Administration (NMPA) in China, the Pharmaceuticals and Medical Devices Agency (PMDA) in Japan, and the Central Drugs Standard Control Organization (CDSCO) in India.
The FDA is an end-to-end authority on drug testing and regulation in the US
The FDA is a self-contained entity, with full control over drug approvals in the US in a very standardized process. The companies developing the drug will first file an investigational new drug (IND) application when they want to begin clinical trials. The FDA then reviews this huge dossier of information that comprises that application, detailing all of the pre-clinical data (experiments in cells and animal models) the company has worked to put together, and they then either approve it so the company to start clinical trials and begin testing their drug in people, or they don’t and things will pause.
The company might continue to have interactions with the FDA as needed and seek advice as drug development progresses through Phase 1 and Phase 2 trials. Then at the end of Phase 2 trials, all companies have to meet with the FDA and discuss plans for their Phase 3 trial. Together, this means that the FDA has a very prescriptive series of interactions with each company as they progress through the drug development pipeline. Because the FDA has been in the loop the whole way through this process, they should have the complete back story on each drug.
After the Phase 3 trial concludes, they will often privately advise companies on their potential chances of success if they were to file a new drug application (NDA), the final approval needed to bring their drug to market. This does not mean if a company files an NDA it will definitely be approved but more the opposite; that if the FDA suggests that a company NOT file for approval because the data for their drug are too weak, they will generally follow this advice.
The EU regulatory system works to serve all of its member states
In contrast to the US system, the EU system has multiple layers of organization, a reflection of the fact that it works to represent so many different countries.The EMA itself is not the regulator of clinical trials in the EU; this is controlled by each of the member states. This means that it is perfectly possible, although generally inadvisable, that the first time a drug company will interact with the EMA is when it starts the process to seek approval for its drug.
However, the EMA does offer scientific advice to companies, to support the development of new drugs. Scientific advice could be used to check with an independent body about the company’s choice of endpoints (what they plan to measure and benchmark against in the trial) or the population they plan to test in, and whether this all makes sense. This service helps companies do a better job designing and running their preclinical and clinical studies. This can help ensure that they meet regulatory criteria before submitting their drug for approval, reduce the risk of failure, and streamline the drug development process.
Once clinical trials are complete, in the EU system the companies will prepare a dossier with all kinds of information about the drug they have been testing to submit to the regulators. This is a huge administrative task and a lot of work for the companies to do and can take a very long time – up to 12 or 14 months! In fact, big pharmaceutical companies like Pfizer and Novartis will have dedicated teams whose sole job is to put applications like this together. We asked Cristina about the significance of this step in the drug approval process and what this might indicate about the likelihood that a drug would be approved. She clarified that submitting this package had little to do with the merit of the application, and it is a largely administrative milestone in the drug approval timeline.
EMA approval is directed by a committee of experts
The EMA also differs from the FDA as it does not itself hold the decision-making power about whether a drug is approved. The approval instead comes from another body called the European Commission (EC). Linking the EMA and EC is the committee for medicinal products for human use (CHMP) comprised of a representative from each member state, and experts in the fields of science relevant for the application. CHMP reviews all of the materials provided in the dossier submissions to the EMA by drug companies and gives an opinion on whether the drug should be approved to the EC. But it is the EC who makes a final decision on whether a license will be granted for a particular drug.
This is a complex process, not made any easier to understand by all the acronyms! Cristina sat on the CHMP for 13 years and is an expert on drug approval in the EU. She tells us that whereas just one faction is ultimately in charge of approvals at the FDA, there is a large and complex network of people in the EU system, making sure that the collective interests of all EU citizens are considered and represented in the process.
Despite this diversity of perspective, the CHMP works to ensure consensus of opinion in their recommendation, and does their best to avoid a split vote, which could open the door to applicant companies exploiting possible wedge issues. In practice, this can mean that CHMP could make a recommendation for approval, but with caveats, to ensure that consensus is reached. These caveats might be about permitted dosing strategies or who can receive the drug. For example, a breast cancer drug might be approved but only for patients with a certain genetic mutation instead of all breast cancer patients.
Do all drugs follow this same approval process?
Often, this is not the end of the process and there is considered to be a Phase 4 of clinical trials, as drugs are monitored for their effect after approval. This is to make sure that in much larger populations over longer periods of time, side effects or other occurrences which were not spotted in the course of the normal clinical trial time frame can be identified and assessed.
Sometimes, if the needs of patient groups are extreme and there are no drugs available yet, drugs might be approved even before a Phase 3 trial. This was the case for a PTC Therapeutics drug for Duchenne muscular dystrophy (DMD), Translarna (ataluren), which was conditionally approved by the EU regulators in 2014. Although the Phase 2 trial did not meet its primary endpoint, when the company sliced and diced the data, there did seem to be a somewhat promising effect in a subgroup of trial participants.
Translarna was approved by the EMA under the condition that additional data from a Phase 3 trial confirmed that the drug truly worked in the subgroup PTC had identified. Sadly, this Phase 3 trial did not reach its primary endpoint either. The application to the FDA for approval was denied and the EMA recommended the drug be withdrawn from the market. The EMA concluded that Translarna did not improve walking ability in patients sufficiently, resulting in the non-renewal of its marketing authorization in the EU. This decision was upheld despite appeals from PTC as well as from patient advocacy groups. PTC continues to seek FDA approval, but the inconsistency in clinical trial results remains a challenge for its approval.
This example demonstrates that even after agency approval, this is not the end of the road in drug regulation. However, companies with robust clinical trial data are unlikely to encounter such a turbulent back-and-forth with the regulators for approval of their drug as in this instance, especially if they’re backed by positive data from a Phase 3 trial showing endpoints were met.
Why might the EMA and FDA make different decisions?
In general, the EMA tends to be more restricted in their approvals, compared with the FDA. In fact, there is a growing divide in drugs approved and available in the US that are not approved in the EU. But not all of these differences in approvals are to the benefit of people in the US.
For example, the Alzheimer’s drug, Aducanumab was initially approved by the FDA in 2021 under the accelerated approval pathway. However, its approval sparked significant controversy in regards to its efficacy, as clinical trials did not provide clear evidence of a clinical benefit. This led to the company withdrawing the drug in 2022 as it was no longer commercially viable – the drug had a huge price tag and very few doctors were prescribing it. Following the withdrawal, Aducanumab became a notable example of the complexities and challenges involved in drug approvals, particularly for conditions like Alzheimer’s where treatment options are severely limited.
These setbacks are indescribably disappointing for patient families. The rollercoaster of hope for those battling diseases like DMD, Alzheimer’s, and certainly HD is sufficiently fraying without regulatory approvals and withdrawals of medications that these families hope will modify the course of their disease. The hope, energy, and risk associated with advancing these ineffective medications could have been better spent with additional clinical testing to ensure endpoints are met, preventing such agency withdrawals.
Why are trials held in some countries and not others?
People from HD families have undoubtedly searched for clinical trials they may be eligible for only to be met with the disappointment that those trials aren’t taking place in their country. While certainly disheartening at the time, the decision to restrict trials to certain countries could actually help move drugs along more quickly, hopefully for the benefit of people with HD across the globe.
We recently heard positive Phase 1 trial news from Skyhawk Therapeutics, who is conducting their trial in Australia. Their decision to do this is likely a matter of cost. Healthcare costs in Australia are dwarfed in comparison to those in the US. So companies testing drugs there pay fewer fees to physicians and hospitals, making the trials a fraction of the cost. Although some drug companies are extremely wealthy organizations, smaller companies and start ups are often very cash-strapped. Spending less money to run a trial can improve their chances of survival, hopefully helping them advance their drug more quickly to convince more investors to pitch in and keep the program running.
In Europe, certain countries have faster or slower regulatory application review. Some countries, like Poland, Germany, or Hungary, have notoriously fast review processes. This allows them to attract different companies to their country for clinical trials. Other countries, like France, can be challenging to conduct clinical trials in for companies based in foreign countries, making it more common to see trials conducted there by French companies.
A company will consider trial costs and speed of regulatory approval when deciding where to conduct their trial. Ultimately though, these decisions should help a drug either fail more quickly or reach approval sooner. While we certainly don’t want drugs being tested for HD to fail, if they’re going to fail, we want that to happen as soon as possible. The sooner we know a drug won’t work, the sooner we can move on to something that will. And once we get to drugs that will work, we want those to move toward regulatory approval as quickly as possible.
On our way to triumphs
We would like to extend our heartfelt thanks to Cristina for sharing her expertise with us and talking through all of these complicated processes and considerations for drug approval so we could put this piece together. We are grateful to have experts like Cristina who dedicate their time and energy to helping the HD community.
Overall, the process of developing drugs isn’t easy. Rightfully so! It’s a risky business and we want to make sure drugs are effective, doing what is intended with little to no side effects, before they’re dolled out to the masses.
Right now is an exciting time in HD research – there are countless companies working on drugs for HD, many companies are testing their HD drugs in clinical trials, and some are at the stage of applying for regulatory approval. As more drugs reach this stage, we at HDBuzz want to make sure HD families understand that process, what each of the phases and stages of approval mean, and where we could see setbacks and, hopefully soon, triumphs.
The future undoubtedly holds regulatory approval for HD-modifying drugs. While we take that journey, HDBuzz will be here to help you understand the steps along the way in getting those drugs from the lab bench to the pharmacy shelves.
Scientists searching for new ways to stop Huntington’s disease (HD) have focused in on the repeating C-A-G letters of genetic code that cause the disease. That’s because the exact way these C-A-G letters repeat may have a big impact on when and whether someone develops HD. A group in Boston led by Dr. Jong-Min Lee recently applied a cutting-edge technology to try to change the letters of the C-A-G repeat in cells grown in a dish and mice that model HD. Were they successful? And what could this mean for future therapeutic approaches?
Three repeating letters – and an interruption to the repeat
The genetic code of every living organism is made up of 4 letters – C, A, G, and T. They’re combined in different ways to make every gene in our body, like letters on each page of a book. That’s a lot of diversity for just 4 letters!
HD is caused by a stretch of repeating C-A-G letters in the huntingtin gene – like three letters repeated on one specific page of the book. People who develop HD are born with 36 or more CAG repeats, one after the other at least 36 times, like this on the page: …CAG CAG CAG CAG CAG…
In most people, however, these repeating CAG letters actually have a slight imperfection near the end, which looks like this: …CAG CAG CAG CAA CAG. Notice those three CAA letters? Scientists call this the “CAG repeat interruption”, because it “interrupts” the repeating CAG letters. The CAG repeat interruption is found in the DNA of almost everyone, including people who have the gene that causes HD.
Two words, one meaning
Letters in the genetic code are grouped by threes to create “words” that code for building blocks to create proteins. C-A-G codes for a protein building block called “glutamine”. This is why you may have heard of the CAG repeats referred to as a “polyglutamine” stretch – there’s lots of glutamines in a row.
But C-A-G isn’t the only word that codes for glutamine. C-A-A does as well! This means when the CAG repeat is interrupted by CAA, it doesn’t change the protein word that’s spelled. It still codes for glutamine.
It’s noteworthy that if you get a genetic test for HD and you’re told that you have a certain number of repeats, like 42 for example, that number is the pure CAG repeats. They’re not including any CAG repeat interruptions you may have in your genetic code. There may be more glutamines present, but the CAG repeat stretch, uninterrupted, is 42.
More interruptions please
Not long ago, HD researchers discovered that some people with HD have no CAG repeat interruption – and some even have an extra interruption in the CAG repeat!
What is especially interesting about people without the CAG repeat interruption is that they develop HD much earlier than expected – about 12 years earlier. And people with an extra interruption appear to develop HD later – perhaps 5 year later. So there may be something special about those CAA letters that interrupt the repeated CAG letters. Losing the interruption in the middle of CAG letters might make HD symptoms appear earlier – and an extra interruption in the middle of CAG letters might make HD symptoms appear later.
Could adding extra CAG repeat interruptions into the DNA of people with HD help delay or slow symptoms? Changing the DNA of a person is no easy task, but a group of scientists led by Dr. Lee decided to try a cutting-edge approach to introduce more CAG repeat interruptions into cells grown in a dish and mice, as a proof-of-concept to seeing if it would be possible in people.
Changing bases
Dr. Lee’s group teamed up with Dr. Ben Kleinstiver, an expert in “base editing”, to try out their idea of adding more CAG repeat interruptions. What’s base editing? It’s basically a new technology that allows you to change a specific letter on a specific page of the book. It’s targeted to a specific letter like a homing missile. The technology is based on CRISPR discoveries that have been used to create medicines that recently received regulatory agency approval. Base editing is basically based on CRISPR. Ok, I’ll stop with the bad puns.
Base editing is hot-off-the-press technology, so scientists are still working out the kinks. They don’t really know which ingredients of base editing work best to change specific letters in DNA sequences. So Dr. Lee’s group tried a bunch of different combinations of ingredients to see what happened in cells in a dish that have a CAG repeat resembling the repeat in people who have the gene for HD.
In a few combinations of base editing ingredients, up to 50% of cells in a dish had CAA interruptions added to the CAG repeat sequence. That’s pretty amazing! Scientists can’t yet control exactly where these interruptions are added in the CAG repeat, but a few of the letter changes even looked like the extra interruption we see in people with delayed onset of HD symptoms.
Not quite ready for prime time
Getting all the ingredients to make base editing work into people is a big task, similar to the hurdles facing CRISPR therapeutics for HD. This is really hard if you’re trying to get all those ingredients into the brain, where people who have the gene for HD need them.
But scientists are a tenacious bunch of people and Dr. Lee’s group was not about to let the challenge stop them from trying. His group tried the best combinations of base editing ingredients in mice that have the CAG repeat from people that have the gene for HD, with some early indicators that the approach may be working to add interruptions.
We will no doubt hear more about this work in the future, and learn more about whether adding interruptions to the CAG repeat would be a new promising approach to slow HD. Stay tuned!
Since its inception in 2010, HDBuzz has existed with the financial support of non-profit organizations within the Huntington’s disease (HD) space. In our 14 years of service, we have never directly asked the HD community for donations. However, recently during a tenuous time in the existence of HDBuzz, we lost the support of one of our largest and longest standing backers. This seriously jeopardized the existence of HDBuzz. We want to ensure that this never happens again. So that HDBuzz will continue to exist and report science in plain language for the global HD community, we’re asking for your help.
Where does HDBuzz get funding?
To date, HDBuzz has been funded by a consortium of HD community organizations. Our founding partners are the Huntington’s Disease Association of England and Wales, the Huntington Society of Canada, and the Huntington’s Disease Society of America. The Griffin Foundation, a non-profit educational foundation, is a major funding partner. More recently, we’ve received vital financial and stewardship support from the Michael Berman Family Foundation and the Hereditary Disease Foundation (HDF). Currently, we are housed as a project within the HDF until we can get our footing.
These organizations have funded and supported HDBuzz as a service to the entire HD community, but have never received special access to its content, which is freely available to all. They have never had any editorial control over our content, nor have they ever asked for it.
Critically, HDBuzz has never accepted funding or support from drug companies. HDBuzz loves drug companies – we’re hoping they help us cure HD! But taking money from any organization dedicated to a particular therapy could give the impression of bias in our reporting, which we diligently aim to avoid.
Why is HDBuzz’s funding model changing?
In 2024, HDBuzz operations transferred from the UK to the US. This made sense considering the leadership of HDBuzz was no longer located in the UK, but rather in North America.
While this transition was happening, we lost financial sponsorship, stewardship, and support from one of our largest and longest standing donors within the HD nonprofit space. It became clear that solely relying on donations from other HD nonprofits was a finicky model with the potential to jeopardize the existence of HDBuzz.
We realized that we need to explore other models that are more sustainable and are a better reflection of the value that we bring to the HD community. This will allow us to maintain HDBuzz long into the future.
However, our mission remains the same – to report science in an unbiased, easy-to-understand way so that the HD community can better understand HD, research, and clinical trials. Particularly as we advance toward disease modifying drugs, we hope that our services will enable HD families to make educated decisions about their lives, treatment, and care.
Our ask
To build a long-lasting, sustainable model, we are now directly asking our readers to consider contributing to the mission of HDBuzz. With enough generosity, this will allow us to be completely independent from other organizations in the HD space.
Please consider making a donation if you value the services that HDBuzz provides. We want HDBuzz to be sustainable so that we can continue to report unbiased science to the HD community. With your support, we can ensure the continuity of our services. Nothing is expected, but everything is appreciated and sustains what we do at HDBuzz. Please consider giving what you’re able.
What will my donation be used for?
HDBuzz will never be behind a paywall. If you don’t donate, you will still have access to HDBuzz’s content. We strongly believe that science should be accessible to everyone in every way. We do our best to make complicated science easy to understand, and will always provide that without required fees.
We will continue to operate under a creative commons attribution license, offering our content freely for syndication to reach as many people as possible. We strongly encourage you to share our content with anyone who you feel may benefit from it.
Donations will be used to maintain our website, to update our website, to translate our articles into various languages, for travel to conferences so that we can live tweet research, for travel to meetings so that we can present and directly interface with the HD community, and for the time our writers and editors spend reading, writing, developing content, putting together presentations, and presenting to the HD community.
Additionally, we want to expand our content, add writers, increase the number of countries we serve, and interact directly with the HD community in more ways. We are excited to continue the work that we already do and expand that!
Thank you!
We are deeply committed to the HD community and deeply ingrained within it. We have spent the early (and late!) hours of our lives toiling away in labs learning as much as we can about HD. Trying to understand it. Trying to find a treatment for it. We are HD family members, researchers, scientists, supporters, and friends.
We hope that the content you find on HDBuzz brings you information, education, comfort, and hope. Both in dark times, and in sunnier ones. Our goal is to be the conduit through which anyone can access the information HD researchers have. We strongly feel that the job of a scientist isn’t done until the people that need that information most – HD families – also have that information.
It is the honor of everyone who contributes to HDBuzz to report on the stellar HD science being carried out in labs around the world to advance us toward an HD-free future. We profoundly appreciate that the HD community trusts us for relaying the research, the truth behind the science, and what that means for HD families.
To contribute to the mission of HDBuzz, please click the donation button below. Even a $20 monthly donation will go a long way in helping us ensure that HDBuzz is sustainable and will allow us to expand. Thank you for being our new partners in this endeavor!
