Latest news with #Huntington
Los Angeles Times
3 days ago
- Health
- Los Angeles Times
Huntington's Disease: Genetics, Symptoms, and Hope for the Future
Huntington's disease (HD) is one of those rare conditions that affects not just the patient but the entire family—medically, emotionally and genetically. This inherited brain disorder causes gradual breakdown of nerve cells especially in the parts of the brain involved in movement, thinking and mood regulation. Although rare, affecting 3 to 7 people per 100,000 globally, its impact is profound and relentless. With no cure in sight, HD is at the center of intense research to understand its molecular roots and develop targeted therapies [1]. Huntington's disease is inherited in an autosomal dominant pattern, meaning if a person inherits one copy of the defective gene they will develop the disease. The culprit is a genetic mutation in the hd gene (also known as the huntingtin gene), where a DNA segment—specifically a CAG trinucleotide repeat—is abnormally expanded. Normally this segment is repeated 10 to 35 times. In HD it's repeated 36 times or more, sometimes even in the 100s [3] [4] [5] [6]. Huntington's disease is caused by a genetic mutation in the huntingtin gene, specifically the HD mutation involving expanded CAG repeats. This expanded repeat leads to the creation of a toxic version of a protein called huntingtin which misfolds and accumulates in brain cells. Over time these protein clumps disrupt cellular function and lead to death of neurons—especially in the striatum and cortex, areas responsible for motor control and cognition [4] [5]. The loss of nerve cells in these regions is what causes the symptoms of Huntington's disease. Different genetic variants can influence the age of onset and progression of the disease. Researchers have identified two distinct disease phases: an early phase where the brain seems to compensate for the damage and a later phase where symptoms are more visible and rapid neurodegeneration [7]. Understanding the disease process at the molecular level is key to developing new treatments. Huntington's disease symptoms usually emerge between 30-50 years and progress over 15-20 years. The classic triad of symptoms includes: The range of disease symptoms includes symptoms of HD and symptoms of Huntington's disease, covering motor, cognitive and behavioral changes throughout the course of the illness. Research in 2025 has shown that changes in how the striatum connects with the hippocampus may explain some of the memory difficulties HD patients experience, especially those involving spatial awareness [10]. Also worth noting are lesser-known symptoms like loss of smell in advanced disease stages [11] and subtle sex-based differences in disease expression. For example, male patients may have lower levels of 17β-estradiol and reduced number of DARPP-32+ neurons, which may influence disease severity [12]. Other symptoms like sleep disturbances and weight loss may also appear as the disease advances. As the disease progresses symptoms worsen over time with increasing severity of movement disorders, cognitive decline and behavioral changes. Motor symptoms especially uncontrolled movements and balance problems can lead to physical injury from falls or accidents, further impacting quality of life. Juvenile Huntington's disease is a rare form that affects children and adolescents, often presenting with unique features like seizures and more rapid progression compared to adult-onset cases. Huntington's disease diagnosis is confirmed by a genetic test showing 36 or more CAG repeats in the HTT gene. However, the diagnostic process also involves: Presymptomatic genetic testing is available for individuals without known family history of HD. While this can provide clarity, it raises ethical challenges, especially around mental health support and family planning [9]. Beyond the faulty gene itself, scientists have found a cascade of biological disruptions that drive HD. Imaging studies show that HD affects brain structure and function, leading to progressive changes in key brain regions and chemical systems: Huntington's disease affects both physical and mental health, leading to movement disorders, cognitive decline and psychiatric symptoms that worsen over time. Each of these changes leads to neuronal death, providing multiple targets for therapeutic intervention. Individuals who inherit the genetic mutation will develop Huntington's disease. There's no cure for HD yet, but several treatments can help manage symptoms: More exciting, however, are the experimental approaches in development: For updates on these trials, you can follow progress via resources like the HD portal, or the European Huntington's Disease Network. People with Huntington's disease benefit from tailored care and support, and their involvement in research and clinical trials is crucial for developing better therapies. Living with Huntington's isn't just about managing symptoms—it's about navigating a complex emotional and social landscape. Many patients grapple with: Family members are often deeply involved in caregiving, emotional support, and making important decisions throughout the course of the disease. Because of this, a team-based approach to care is critical. Neurologists, psychiatrists, genetic counselors, social workers, therapists, and genetic counseling services all play a part in supporting HD patients and their loved ones. A genetic counselor is a healthcare professional who guides patients through the genetic testing process, explains inheritance patterns, and answers questions about the benefits and risks of testing. Huntington's disease is a devastating diagnosis, but the landscape is slowly shifting. Thanks to advances in genetic research, brain imaging, and experimental therapies, we're moving closer to more personalized and effective treatments. Until then, early diagnosis, supportive care, and active participation in research remain key to improving quality of life for those affected by HD. [1] Stoker, T. B., Mason, S. L., Greenland, J. C., Holden, S. T., Santini, H., & Barker, R. A. (2022). Huntington's disease: diagnosis and management. Practical neurology, 22(1), 32–41. [2] Walker F. O. (2007). Huntington's disease. Lancet (London, England), 369(9557), 218–228. [3] Kim, A., Lalonde, K., Truesdell, A., Gomes Welter, P., Brocardo, P. S., Rosenstock, T. R., & Gil-Mohapel, J. (2021). New Avenues for the Treatment of Huntington's Disease. International journal of molecular sciences, 22(16), 8363. [4] Ghosh, R., & Tabrizi, S. J. (2018). Huntington disease. Handbook of clinical neurology, 147, 255–278. [5] McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European journal of neurology, 25(1), 24–34. [6] Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., Nance, M., Ross, C. A., Scahill, R. I., Wetzel, R., Wild, E. J., & Tabrizi, S. J. (2015). Huntington disease. Nature reviews. Disease primers, 1, 15005. [7] Hong, E. P., MacDonald, M. E., Wheeler, V. C., Jones, L., Holmans, P., Orth, M., Monckton, D. G., Long, J. D., Kwak, S., Gusella, J. F., & Lee, J. M. (2021). Huntington's Disease Pathogenesis: Two Sequential Components. Journal of Huntington's disease, 10(1), 35–51. [8] Wolf, B., Schwarzer, A., Côté, A. L., Hampton, T. H., Schwaab, T., Huarte, E., Tomlinson, C. R., Gui, J., Fisher, J. L., Fadul, C. E., Hamilton, J. W., & Ernstoff, M. S. (2012). Gene expression profile of peripheral blood lymphocytes from renal cell carcinoma patients treated with IL-2, interferon-α and dendritic cell vaccine. PloS one, 7(12), e50221. [9] Rodríguez-Arribas, M., Yakhine-Diop, S. M. S., Pedro, J. M. B., Gómez-Suaga, P., Gómez-Sánchez, R., Martínez-Chacón, G., Fuentes, J. M., González-Polo, R. A., & Niso-Santano, M. (2017). Mitochondria-Associated Membranes (MAMs): Overview and Its Role in Parkinson's Disease. Molecular neurobiology, 54(8), 6287–6303. [10] Glikmann-Johnston, Y., Delagneau, G., Barta, T., Stout, J. C., & Razi, A. (2025). Neural Mechanisms of Object Location Memory in Huntington's Disease. Movement disorders : official journal of the Movement Disorder Society, 10.1002/mds.30232. Advance online publication. [11] Bylsma, F. W., Moberg, P. J., Doty, R. L., & Brandt, J. (1997). Odor identification in Huntington's disease patients and asymptomatic gene carriers. The Journal of neuropsychiatry and clinical neurosciences, 9(4), 598–600. [12] Bode, F. J., Stephan, M., Suhling, H., Pabst, R., Straub, R. H., Raber, K. A., Bonin, M., Nguyen, H. P., Riess, O., Bauer, A., Sjoberg, C., Petersén, A., & von Hörsten, S. (2008). Sex differences in a transgenic rat model of Huntington's disease: decreased 17beta-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males. Human molecular genetics, 17(17), 2595–2609.
Yahoo
3 days ago
- Business
- Yahoo
Skyhawk Therapeutics Announces First Patient Dosed in Phase 2/3 FALCON-HD Trial of SKY-0515 for Huntington's Disease
SKY-0515 is an oral small molecule designed to reduce the production of both huntingtin (HTT) and PMS1 proteins—two key drivers of HD pathology Initiation of the FALCON-HD trial follows promising Phase 1 results demonstrating up to 72% reduction in HTT mRNA in healthy volunteers The SKY-0515 Phase 1 trial in patients with Huntington's disease reached full enrollment ahead of schedule BOSTON, June 18, 2025 /PRNewswire/ -- Skyhawk Therapeutics, Inc., a clinical-stage biotechnology company developing novel small molecule therapies designed to modulate critical RNA targets, today announced that the first patient has been dosed in its Phase 2/3 FALCON-HD trial evaluating SKY-0515, an investigational oral RNA splicing modulator for the treatment of Huntington's disease (HD). SKY-0515 is designed to reduce the production of both HTT and PMS1 proteins—two key drivers of HD pathology. In a Phase 1 study in healthy volunteers, SKY-0515 demonstrated dose-dependent HTT mRNA reduction, achieving an average of 72% lowering at the highest dose tested. The compound was generally well tolerated across all doses. Additionally, the Company's Phase 1 trial in HD patients, which began in January 2025, completed enrollment ahead of schedule in March 2025. "Dosing the first patient in our FALCON-HD trial marks a significant milestone in our mission to develop a disease-modifying therapy for Huntington's patients," said Bill Haney, Founder and Chief Executive Officer of Skyhawk Therapeutics. "Building on our compelling Phase 1 data, we are eager to assess SKY-0515's potential to make a meaningful difference in the lives of patients affected by this devastating condition." FALCON-HD is a Phase 2/3 randomized, double-blind, placebo-controlled, dose ranging study to evaluate the pharmacodynamics, safety, and efficacy of SKY-0515 in participants with Stage 2 and early Stage 3 HD. The trial includes multiple sites across Australia and New Zealand. The initial dosing took place at Flinders Medical Centre in Adelaide, Australia. "We are pleased to participate in this important clinical trial and to have dosed the first patient here at Flinders," said Dr. Karyn Boundy, FRACP, Neurologist, Principal Investigator at Flinders Medical Centre. "Given the lack of approved disease-modifying treatments for Huntington's disease, we are hopeful that SKY-0515 could offer a new therapeutic option for patients." "As Skyhawk kicks off their Phase 2/3 FALCON-HD trial in Australia and New Zealand, the international Huntington's community looks forward to expansion worldwide," said Ed Wild, professor of neurology at the University College London. "SKY-0515's unique ability to reduce both HTT and PMS1 could meaningfully enhance therapeutic impact beyond that of lowering HTT alone." About the FALCON-HD TrialFALCON-HD (NCT06873334) is a Phase 2/3 randomized, double-blind, placebo-controlled, dose ranging study to evaluate the pharmacodynamics, safety, and efficacy of SKY-0515 in participants with Stage 2 and early Stage 3 HD. The trial plans to enroll 120 subjects across 10 sites in Australia and New Zealand. Eligible patients will receive a once-daily oral dose of SKY-0515 at one of three dose levels, or placebo, for a treatment period of at least 12 months. The trial aims to assess the potential of SKY-0515 to modulate RNA splicing and reduce the production of huntingtin (HTT) and PMS1 proteins, which are implicated in the pathology of Huntington's disease. Additional information about FALCON-HD, including participating sites and eligibility criteria, can be found at and About SKY-0515SKY-0515 is an orally administered small molecule RNA splicing modulator developed through Skyhawk's proprietary platform. It is designed to reduce production of both huntingtin (HTT) and PMS1 proteins, two key contributors to Huntington's disease. SKY-0515 has shown robust, dose-dependent HTT mRNA reduction—up to 72%—in healthy volunteer studies, with favorable safety and tolerability. SKY-0515 is currently being evaluated in a Phase 2/3 clinical trial. About Skyhawk TherapeuticsSkyhawk Therapeutics is a clinical-stage biotechnology company focused on the discovery and development of novel small molecule therapies designed to modulate critical RNA targets and revolutionize patient treatment for some of the world's most intractable diseases. Skyhawk's discovery expertise is rooted in its proprietary drug discovery platform, which assesses, identifies, and tests RNA splicing targets and small molecules across a broad range of therapeutic areas and disease states. Skyhawk has built collaborations with multiple pharma partners that leverage Skyhawk's novel platform across disease areas including neurodegenerative disease, autoimmune disease, and oncology. For more information visit Skyhawk ContactsKyle Dow, VP Corporate Logo - View original content: SOURCE Skyhawk Therapeutics Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Business Wire
4 days ago
- Business
- Business Wire
PTCT Investors Have Opportunity to Join PTC Therapeutics, Inc. Fraud Investigation with the Schall Law Firm
LOS ANGELES--(BUSINESS WIRE)-- The Schall Law Firm, a national shareholder rights litigation firm, announces that it is investigating claims on behalf of investors of PTC Therapeutics, Inc. ('PTC' or 'the Company') (NASDAQ: PTCT) for violations of the securities laws. The investigation focuses on whether the Company issued false and/or misleading statements and/or failed to disclose information pertinent to investors. PTC issued a press release on May 5, 2025, 'announc[ing] results from the Phase 2 PIVOT-HD study of PTC518 (votoplam) in Stage 2 and Stage 3 Huntington's disease (HD) patients.' According to the Company, 'the study met its primary endpoint of reduction in blood Huntingtin (HTT) protein levels (p<0.0001) at Week 12 and favorable safety and tolerability.' However, analysts who reviewed the data believe that the Company would need to conduct a Phase 3 study to determine if the treatment actually slows HD. Based on this news, shares of PTC fell by more than 18.6% on the same day. If you are a shareholder who suffered a loss, click here to participate. We also encourage you to contact Brian Schall of the Schall Law Firm, 2049 Century Park East, Suite 2460, Los Angeles, CA 90067, at 310-301-3335, to discuss your rights free of charge. You can also reach us through the firm's website at or by email at bschall@ The Schall Law Firm represents investors around the world and specializes in securities class action lawsuits and shareholder rights litigation. This press release may be considered Attorney Advertising in some jurisdictions under the applicable law and rules of ethics.
Yahoo
4 days ago
- Business
- Yahoo
Huntington Bancshares Expands Commercial Banking into Florida
Huntington Bancshares Incorporated (NASDAQ:HBAN) is one of the 11 most profitable NASDAQ stocks to buy now. Earlier in mid-May, Huntington Bancshares announced its expansion into Florida's commercial banking sector. This move is part of the bank's broader national growth strategy, following recent expansions in North Carolina, South Carolina, and Texas over the last 2 years. Huntington's Florida push will initially focus on providing middle-market services, with a new office established in Fort Lauderdale. To lead these efforts, Huntington has hired Josh Sheradsky as Senior Managing Director. Sheradsky brings 16 years of experience as a middle-market banker in South Florida. A professional banker with a stack of mortgage papers and a pen in hand, ready to make the deal. Huntington's commercial banking segment offers services to mid-sized corporate clients, such as lending, liquidity solutions, treasury management, payment services, and capital markets support. The teams adopt a relationship-based and insights-driven approach to provide holistic solutions. Additionally, the Florida team will aim to connect middle-market clients with Huntington's other offerings, such as wealth management & investment banking. Huntington Bancshares Incorporated (NASDAQ:HBAN) operates as the bank holding company for The Huntington National Bank, which provides commercial, consumer, and mortgage banking services. While we acknowledge the potential of HBAN as an investment, we believe certain AI stocks offer greater upside potential and carry less downside risk. If you're looking for an extremely undervalued AI stock that also stands to benefit significantly from Trump-era tariffs and the onshoring trend, see our free report on the . READ NEXT: and . Disclosure: None. This article is originally published at Insider Monkey. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Perth Now
7 days ago
- Entertainment
- Perth Now
Scott Porter's marriage went through 'complete change' when wife discovered genetic disorder
Scott Porter's marriage went through a "complete change" when his wife discovered that she had Huntington's disease in her family. The 45-year-old actor has been married to casting director Kelsey Mayfield since 2013, but when she discovered that her mother had the brain disorder that affects movement, thinking, and behaviour, he noted just how "quickly" it had altered things between them. He told People: "That was definitely a moment of complete change, as far as the trajectory of my wife's and my relationship. "It can really tear through families very quickly." Hungtingo's disease is genetic, meaning that each child of a parent who suffers from it has a 50 per cent chance of inheriting it themselves but the Ginny and Georgia star - who has McCoy, 10, and eight-year-old Clover with Kelsey - insisted that getting tested is a "choice" that must be made by each indiviudal. He added: "People who find Huntington's disease is in their family have a choice to make: get tested or not get tested. "Live your life not knowing or live your life knowing that you possibly have a neurodegenerative disease that could take your mind, your body, your balance, your moods, and turn them into something completely different than you are now. "There is no right or wrong way to go about things." The Friday Night Lights actor also noted that when Kelsey learned of her diagnosis, that she simply told him she wanted to be around "as long as possible" for her children He said: "My wife said the words to me: 'I want to be a mother as long as possible.' And that was the impetus for her wanting to get tested. It was the right thing. And as her husband, I was so incredibly supportive of that. "The moments immediately after her positive test were silent. "She looked at me and she said, '50/50 chance. It was a coin flip and it came up tails.."
