HD Focus

A new study led by researchers at University College London explored a promising new way to potentially slow down Huntington disease (HD) by reducing the levels of a key DNA repair protein, called MSH3. Using antisense oligonucleotides (ASOs)—a type of genetic therapy that targets RNA—the researchers successfully stopped C-A-G repeat expansions in lab-grown brain cells derived from people with HD. Their findings highlight a potential treatment approach that could help delay onset of symptoms and progression of HD.

How Expanding C-A-G Repeats May Drive HD

HD is a genetic brain disorder caused by an expansion of C-A-G repeats in the huntingtin (HTT) gene. Everyone inherits two copies of the HTT gene, one copy from each of their parents. While everyone has some C-A-G repeats in their two HTT genes copies, people with HD inherit a copy HTT with too many C-A-Gs.

Research has shown that in certain brain cells, particularly medium spiny neurons - the cells most affected in HD - these C-A-G repeats can continue to grow over time in a process called somatic expansion.

Aktualizácia 24.4.2025 Vyradením MSH3 proteínu pomocou ASO sa v darovaných mozgových bunkách podarilo zastaviť somatickú nestabilitu. Prekvapivým zistením, je že pri vyradení MSH3 sa nie len zastavil nárast počtu opakovaní, ale dokonca sa začal znižovať. Testy prebiehali na geneticky upravených myšiach. Je niekoľko spoločností ktoré sa zameriavajú na znižovanie MSH3. Snáď sa dočkáme v relatívne …

Somatická nestabilita Čítajte viac »

Two recent studies offer fresh insights into how antidepressants, often prescribed to help manage mood and anxiety, are prescribed in Huntington’s disease (HD) and might also influence cognitive decline. One study zooms in on medication use in HD, while the other takes a broader look at dementia and antidepressants. Together, they reveal a complex and […]

Farmaceut Roche kondigt aanpassingen aan in het GENERATION HD2-onderzoek op basis van een tussentijdse analyse. De studie gaat door, maar in de resterende duur zal alleen de dosis van 100 mg worden gebruikt. De dosis van 60 mg komt te vervallen.

De internationale farmaceut Roche heeft een update gegeven over de lopende klinische studie naar tominersen, een experimentele therapie die het huntingtine-eiwit verlaagt bij mensen met de ziekte van Huntington. Een onafhankelijke datamonitoringscommissie (iDMC), die toezicht houdt op de veiligheid en voortgang van het onderzoek, heeft geadviseerd om het onderzoek voort te zetten, met één belangrijke wijziging: voortaan wordt alleen de hogere dosis (100 mg) van het middel verder getest.

Two recent studies offer fresh insights into how antidepressants, often prescribed to help manage mood and anxiety, are prescribed in Huntington’s disease (HD) and might also influence cognitive decline. One study zooms in on medication use in HD, while the other takes a broader look at dementia and antidepressants. Together, they reveal a complex and evolving map of treatment decisions. But this doesn’t mean people living with HD should stop taking antidepressants. Let’s dig into why that is.

Evolving HD Medication Landscape

The first study examined medication use among people with HD, using data from thousands of people in Enroll-HD, the largest observational study of the disease. Among other things, Enroll-HD collects data on what medications are most commonly used during HD care. One striking finding? A staggering 84% of people with HD use at least one medication, with this number climbing as the disease progresses.

In the early stages, people with HD take an average of 2.5 medications. But as the disease advances, that number more than doubles to 5.2. This really highlights just how much a person’s medical needs change as HD progresses.

A Journey of Connection, Courage, and Hope Why attending conferences can truly change your life – Written by Claudia Villa on 16th April 2025 Huntington’s disease…

Scottish Huntington’s Association is co-hosting a unique webinar presented by Woody’s grand-daughter Anna Canoni, President of Woody Guthrie Publications. As […]

Real progress is being made on the road to Huntington’s disease (HD) treatments, but in today’s fast-moving digital world, it can be harder than ever to separate genuine breakthroughs from overhyped headlines or flat-out misinformation. That’s why HDBuzz has updated our Ten Golden Rules to help you decide whether a piece of news about HD […]

Recently, during a HIPE discussion the conversation shed light on the complexities of managing chorea, a involuntary movement frequently...

Aktualizácia 11.12.2024 UniQure požiadalo FDA o zrýchlený postup pri schvaľovaní AMT-130 a vyzerá to tak, že nebude potrebné vykonávať ďalšie skúšky, čo by znamenalo že bude možné požiadať o schválenie lieku. Rovnako ako v Amerike (FDA) tak aj v Európe (EMA) chce UniQure začať rokovania s EMA za účelom posúdenia a schválenia ich terapie. Originál …

AMT 130 – aktualizované Čítajte viac »

Aktualizácia z 19.4.2025  Testovanie lieku pokračuje v novej štúdii a tento týždeň bola upravená dávka ktorá sa počas štúdie používa.Celkovo je v štúdii 301 účastníkov a dostávajú dávku každých 16 týždňov. Podľa nezávislej komisie asi prináša liek nejaký benefit nakoľko upravili dávkovanie počas štúdie. Testovanie by malo byť ukončené v roku 2026. Originál článku tu. …

Tominersen – Znovuotvorenie programu Čítajte viac »

~ Breakthrough Therapy designation based on clinical evidence from Phase I/II trials showing meaningful slowing of disease progression ~ ~ Additional regulatory update and guidance on the Biologics License Application […]

LEXINGTON, Mass. and AMSTERDAM, April 17, 2025 (GLOBE NEWSWIRE) -- uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing...

Roche has announced the continuation of the GENERATION HD2 Phase II clinical trial evaluating tominersen in individuals with early signs of Huntington’s disease. Following an interim analysis by an independent committee, no […]

Vi har glädjen att bjuda in er till årets Nationella möte som går av stapeln 22 oktober på hotell Kusten i Majorna, Göteborg. I år har man möjlighet att både delta på plats eller via länk. OBS! Anmälan krävs till båda. Läs mer om tider och anmälan nedan. Antal platser på plats i Göteborg är…

Inlägget Nationellt möte 22 oktober! Läs mer och anmäl dig här! publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

This week, we heard an update from Roche about their huntingtin-lowering therapy, tominersen, currently being tested in the GENERATION HD2 trial. An independent data monitoring committee (iDMC) that regularly reviews all of the data from the trial recently held their scheduled meeting and made a recommendation to modify the trial design. To cut to the chase and set everyone’s mind at ease - the trial is continuing and there are no major safety concerns. Tominersen still appears to be well tolerated but there are some changes to the trial in regards to the dosing of the drug that the community should know about. Let’s get into it.

Recap - what is tominersen and how does it work?

Tominersen is an experimental drug developed by Roche that is designed to treat Huntington’s disease (HD) by targeting the root cause of the condition: the huntingtin (HTT) gene. People with HD inherit a version of this gene with a mutation at the beginning that leads to the production of a faulty version of the HTT protein. Making this faulty protein is thought to cause damage to brain cells, leading to the progressive symptoms of HD.

HUNTINGTON’S DISEASE SOCIETY OF AMERICA AWARDS MORE THAN $1.8 MILLION TO EXPAND HDSA CENTERS OF EXCELLENCE NETWORK TO SIXTY-NINE SITES ...

The post HUNTINGTON’S DISEASE SOCIETY OF AMERICA AWARDS MORE THAN $1.8 MILLION TO EXPAND HDSA CENTERS OF EXCELLENCE NETWORK TO SIXTY-NINE SITES first appeared on Huntington's Disease Society of America.