March 8th, 2018
Interpreting this week’s news: data from the first phase of the Ionis-Roche Trial
This week, Ionis Pharmaceuticals shared data from the successful safety trial for their huntingtin-lowering drug. The data confirms what was announced in December 2017: the drug safely lowers mutant huntingtin. No one taking the drug had a serious side effect, and no one dropped out of the trial – these are great signs of a safe and promising therapy. The next step is a larger trial that will be carried out by Roche Pharmaceuticals to see whether the drug has any effect on symptoms. There has not yet been an announcement about when and where this will take place, or who is eligible, but HDSA will continue to share the news as soon as updates are available.
For more info, check out HDSA’s responses to Frequently Asked Questions about the trial.
The full results from the Phase 1b/2a trial were presented at the annual CHDI Huntington’s disease therapeutics conference in Palm Springs and also during a live webcast on the Ionis webpage. The materials were directed at scientists and investors, but HDSA shared a community statement from Ionis and Roche when the results were announced. If you are interested in seeing the data slides from these presentations, pdf copies are available for a limited time on the Ionis website.
A great narrative article about Huntington’s disease, the past and present of HD research, and the Ionis/Roche trial was published this week in Mosaic. Gene Veritas wrote an informative blog post about the results at the CHDI conference.
March 1st, 2018
CHDI’s Huntington’s Disease Conference in Palm Springs
This week in Palm Springs, California marks the 13th Annual HD Therapeutics Conference. This yearly conference draws academic and industry researchers from all over the world to share their work about Huntington’s disease and participate in discussions about the latest in HD drug discovery. HD Buzz is covering the 3-day conference in real time through live tweets and on their webpage.
Interpreting this week’s news: basic science tools to better understand HD:
A better picture of huntingtin protein
To figure out how mutant huntingtin can do so much damage to the brain, scientists have long wanted to take a snapshot of the protein’s actual shape. This has been difficult to do because of huntingtin’s large size and floppy structure. A group of German scientists has finally cracked it by using an extremely powerful microscope and capturing huntingtin with one of its many dance partners, a protein called HAP40. Apparently huntingtin looks like a pair of headphones! This structural information is a milestone for researchers and could help to inform us about the best angle of attack for a future drug.
Tweaking CRISPR to make it more efficient
CRISPR is an experimental technique for editing genes that has gotten some buzz this week in the HD community. You can picture it like a scissor cutting through a taut length of ribbon in a specific spot. A team in Poland recently found a way to make an even more precise cut and tested it in HD patient skin cells grown in a dish. They were able to cut more carefully around the DNA mutation and decrease levels of the harmful huntingtin message and protein. However, be wary of headlines touting this as a cure. It’s definitely a good research tool and a step towards improving the efficiency and safety of the CRISPR technique, but it will require more exploration before it can be developed into a therapy.
Using Skin Cells to Study the Brain
What if a donated skin sample growing in a laboratory vial could be used to study a person’s brain? A team at Washington University St. Louis led by scientist Andrew Yoo developed a chemical cocktail applied to skin cells growing in a dish that causes them to morph into medium spiny neurons, the brain cells that die in HD. When the growing skin cells from symptomatic HD patients were “reborn” as brain cells, they showed clumps of huntingtin and damage similar to what occurs in the brain. This could be a useful new tool making it simpler and more accurate to study human cells in a dish.
February 22nd, 2018
Interpreting this week’s news: Hope for gene therapy, and how to get it to the brain
Getting gene therapies into the brain
Delivery of genetic therapies to the brain is one of the biggest challenges facing researchers in many fields of neurological disease, including HD. One novel approach, tested only experimentally in mice, is to use a type of harmless virus that can cross from the blood into the brain. Researchers at the University of North Carolina School of Medicine are studying the best ways to adapt these tiny viruses so that someday, safe, low-dose delivery of genetic therapies to the brain might be possible through an IV. While these experiments are not directly related to HD, rest assured that researchers in the field are quick to embrace new technologies and apply them to the development of HD therapies.
Huntingtin-lowering and Hope
A personal story from a participant in the Ionis trial and a discussion of ongoing approaches in HD drug discovery provide a hopeful account of the technological leaps in the field and highlight the importance of clinical research participation.
Participants needed for an HDSA-funded study
Do you live in the Indianapolis, Cincinatti, or Louisville areas? Consider participating in a study by an HDSA-supported researcher in Bloomington, Indiana. Alan Phipps at the University of Indiana Bloomington is examining the effects of noninvasive brain stimulation on movement in adults (18-80) in the early or middle stage of Huntington’s disease. It involves three experimental sessions of 30 minutes each involving treadmill walking and a weak electric current delivered through electrodes on your head. For participating you will receive a gift card valued at $50 for each experimental session completed, and travel reimbursement check for up to 500 miles (paid after the final session). Testing will take place in the Kinesiology Department at Indiana University Bloomington. If you are interested in volunteering or have any questions, please contact the Neuromuscular Control Lab at 812-855-3714 or reach out to Alan Phipps at email@example.com.
FDA states intention to advance treatments for brain disease
This week the FDA released a statement acknowledging the urgent need for medical treatments for neurological disorders, sharing their intention to include more patient and family input, and introducing measures to modernize the way they communicate about drug development guidelines. Newly released documents incorporating input from doctors, patients, researchers and advocates have laid out expectations for therapy design across five major brain diseases. Although Huntington’s Disease is not included in the initial release, this lays the groundwork for appropriate trial design and speedier approval of novel therapies for many neurological disorders, and more guidelines will follow. HDSA-backed efforts towards advocacy on Capitol Hill, within industry through HD-COPE, and in partnership with other rare disease organizations will continue to ensure community visibility and engagement that garners FDA attention.
February 15th, 2018
Interpreting This Week’s News: Fighting Cancer…With HD?
Research studies in recent years have shown that people with Huntington’s Disease and related hereditary CAG repeat disorders have lower rates of cancer than the general population. We’re not sure why that’s the case, but some scientists suspected that the HD gene and its toxic RNA message might actually have some cancer-fighting power. In a recent publication, a team at Northwestern University reported that they attacked cancer cells using bits of the repeating CAG section of huntingtin. This successfully slowed the growth of tumor cells in dishes and in mice. This is a very cool idea, but be aware that recent press releases have upped the hype: we’re not about to start giving people HD to cure their cancer. Treating one disease through the gene that causes another is a tricky business requiring a LOT more research. Nevertheless, it’s really exciting when research into Huntington’s Disease provides new insights for a broader realm of medicine.
Participate in a Research Survey
HDSA supports young scientists and medical professionals who have designed research surveys about HD by sharing links to their university-approved studies on our website. We’re featuring two studies this week:
Genetic testing and Social Media
Kaitlyn Riley, a Genetic Counseling student at Virginia Commonwealth University, is studying whether people use social media to share their genetic test results for different conditions (including HD). She wishes to learn whether people may benefit from social media use when discussing test results. This research is important for organizations like HDSA because it can inform us about how best to support individuals and families as they navigate genetic testing in the age of the internet.
Medical Coverage for People with Disabilities
The NIDILRR-funded Collaborative on Health Reform and Independent Living (CHRIL) is looking for adults with disabilities to complete an online survey about getting and using health insurance and health care services. The goal is to understand how the Affordable Care Act (ACA) may be affecting your life. Whether you have private insurance, insurance from an employer, Medicaid, Medicare, or no insurance, your responses will help the HD community to have a voice in the national dialogue about medical coverage.
February 8th, 2018
First HD-COPE Meeting
The first meeting of the Huntington’s Disease Coalition for Patient Engagement (HD-COPE) took place in London this week. HD-COPE unites organizations serving HD families in Europe, Canada, and the USA to help give patients a direct voice in clinical research by facilitating communication between the HD community and pharmaceutical companies working on drugs for HD. Family input is especially important as potential huntingtin-lowering treatments enter clinical trials. To learn more about HD-COPE, read HDSA’s September press release.
Interpreting This Week’s News
Recent press suggests that consuming sugary, caffeinated sodas could lead to an earlier onset of HD. But don’t get too alarmed about your pop consumption – even the researchers who performed the study are cautious about making this interpretation. They looked at many lifestyle factors (like smoking, alcohol, soda, and morning coffee) in around 250 at-risk individuals over a period of about 4 years. For the 36 people who developed HD symptoms during the study, statistics suggest that caffeinated soda might have been a potential culprit – but not coffee or tea. The researchers conclude that development of symptoms “was generally not affected by the lifestyle factors that we investigated,” and that further study is necessary before recommending dietary changes to people at risk.
Another recent news article and an audio segment on NPR’s Science Friday suggest that we need to re-evaluate huntingtin lowering because of new insights about how the protein affects the developing fetus. However, the media’s interpretation of the research has been puzzling. A team at Rockefeller University in New York created some new tools to study the role of huntingtin protein in an embryo growing in a dish. They found that huntingtin could be doing harm in brain cells much earlier than we think, but the news confused their novel techniques with a clinical approach. Check out this detailed explanation of their findings from HDBuzz.