HD Focus

El pasado 20 de junio de 2024, la empresa farmacéutica PTC Therapeutics, ha publicado resultados preliminares tras 12 meses de la fase 2 del estudio PIVOT-HD, en el que estudian […]

La entrada Nuevos resultados favorables al estudio PIVOT-HD se publicó primero en .

Der Huntington-Tag war ein wunderbares Erlebnis in der Ramseier-Fabrik, wo wir die Prozesse dieses Schweizer Unternehmens erkundet haben, das für seine natürlichen Fruchtgetränke bekannt ist. Ähnlich wie Ramseier, das aus Unsicherheit und Zweifeln über den Erfolg entstand, haben wir in der Huntington-Familie wachsen sehen, dass wir eine einzigartige und besondere […]

Oproep voor deelname aan online cursus voor partners die zich voorbereiden op een toekomst met Huntington

In het najaar van 2024 organiseert Huntington Expertisecentrum Atlant in Apeldoorn een online training voor stellen die in de toekomst te maken zullen krijgen met de ziekte van Huntington. Eerdere cursisten vonden het waardevol om te leren praten over het vooruitzicht van de ziekte en over wat ze van elkaar nodig hebben. Door het contact met andere cursisten voelden ze zich ook minder alleen. Er is nog ruimte voor enkele stellen. Heeft u interesse, geef u dan op tijd op!

Meer informatie over de Houd-me-Vast training

Nel decorso della malattia di Huntington si assiste ad una progressiva compromissione delle funzioni cognitive, motorie, psicologiche nonché di quelle legate al linguaggio, con diversi livelli di deficit. E così si presentano aprassia o lentezza dei movimenti, potenziali problemi cognitivi e/o comportamentali, alterazioni del sistema muscolo-scheletrico, dell’equilibrio e della forza, affaticamento, diminuzione di  partecipazione alla […]

L'articolo Sguardi sulla malattia: dal corpo alla mente proviene da huntington-onlus.

Today, Wave Life Sciences announced positive results from SELECT-HD, our Phase 1b/2a placebo-controlled trial evaluating the investigational therapy WVE-003. These results demonstrate that WVE-003 selectively lowers toxic, mutant huntingtin (mHTT) […]

We are so proud of volunteer fundraiser Lauren Boag whose incredible support for Huntington’s families was recognised at this year’s Scottish Charity Awards. Lauren was presented with a Highly Commended certificate in the Volunteer of the Year category – one of only two special such awards announced by broadcaster Sally

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The post Highly commended Lauren continues to inspire others appeared first on Scottish Huntington's Association.

Update Huntington geneesmiddelenonderzoek; gunstige eerste resultaten van onderzoeksmiddel PTC518.

Afgelopen donderdagmiddag (20-juni-2024) heeft farmaceut PTC Therapeutics tussentijdse resultaten gedeeld van de Fase 2 PIVOT-HD studie voor de behandeling van de ziekte van Huntington (ZvH) met het middel PTC518. Hieruit blijkt dat er voorzichtig kan worden gezegd, dat er positieve resultaten zijn behaald. In Nederland nemen er momenteel 11 patiënten deel aan deze studie die loopt in het LUMC. 

On June 20, 2024, we received an update from PTC Therapeutics about their ongoing trial, PIVOT-HD. PIVOT is testing PTC-518, a small molecule drug, taken as a pill, that lowers huntingtin (HTT) in people with Huntington’s disease (HD). Their most recent update shared data from people who had been on the drug for 12 months. Read on to learn what their new results tell us!

HTT lowering

Before we get into the juicy details of the data release, let’s cover some basics about why PTC is interested in lowering HTT and what they hope it will do.

We know that the genetic cause of HD is an expansion of the genetic code within the HTT gene. There’s an extra bit of genetic message that repeats the letters C, A, and G more times than it should. When someone has 40 or more CAG repeats in their HTT gene, they’ll go on to develop HD, unless researchers can find some way to intervene.

A farmacêutica PTC Therapeutics divulgou um comunicado de imprensa com resultados preliminares do PIVOT-HD, ensaio clínico de fase II que avalia a segurança e eficácia do medicamento experimental PTC518 em pacientes com Doença de Huntington (DH). De acordo com o comunicado, os dados coletados ao longo de 12 meses demonstram que o medicamento experimental PTC518 […]

O post PTC Therapeutics divulga resultados preliminares do estudo PIVOT-HD com o PTC518 apareceu primeiro em ABH - Associação Brasil Huntington.

At Month 12, mutant Huntingtin (mHTT) in the blood was lowered by 22% and 43% respectively for 5mg and 10mg doses. A similar result was seen in cerebrospinal fluid, where […]

        Our work with children and young people has been recognised with a major national award. The YouthLink Scotland National Youth Work Awards – the ‘Oscars’ of the youth work sector – were held in Glasgow on 12 June 2024. Scottish Huntington’s Association beat stiff competition from

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The post Scottish Huntington’s Association scoops national youth work award appeared first on Scottish Huntington's Association.

Earlier this week Sage Therapeutics announced the results of their SURVEYOR study which quantified the cognitive impact of Huntington’s Disease.  Using the HD-Cognitive Assessment Battery (HD-CAB) they measured the difference […]

Scottish Huntington’s Association has announced a new fund to support the impact of research into ways to improve the lives of families impacted by Huntington’s disease in Scotland and beyond. The charity’s Impact and Engagement Fund has been made possible through a generous legacy donation in support of the charity’s

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The post Scottish Huntington’s Association launches its first funding call to support new research appeared first on Scottish Huntington's Association.

Sage Therapeutics released a press statement on June 11th that focuses on the main results of a study called SURVEYOR, aimed at studying cognition (thinking) in Huntinton’s disease (HD) and testing the safety of a drug called dalzanemdor (previously SAGE-718). Let’s talk about what we know and what’s next!

Amplifying nerve cell messages to improve thinking

Sage Therapeutics works on brain health across a variety of diseases. One of their areas of focus is cognition (thinking) and executive function - the ability to make decisions, plan, and act on new information. This area of research is particularly relevant to the HD field, because cognitive changes have a huge impact for people living with HD.

Sage has been working on an experimental therapy called dalzanemdor. The drug acts on NMDA receptors, which help to transmit chemical messages between nerve cells. There is an imbalance in this messenger system across many diseases, which causes changes in thinking and memory. Dalzanemdor is a type of drug designed to boost the messages passed by NMDA receptors - it’s a bit like giving your brain cells a megaphone.

Reservera höstens utbildningsdagar redan nu! Riksförbundet Huntingtons sjukdom bjuder in till: Nationellt möte, torsdag den 26 september- Nationellt möte med inbjudna föreläsare och professioner från huntingtonteamen runt om i landet, vilka bland annat talar om; aktuell forskning, omvårdnad, utredningen om högspecialiserad vård, RHS arvsfondsprojekt, fysioterapi. Det kommer även att finnas utställare på plats. Utbildningsdag om…

Inlägget Nationellt möte och utbildningsdag i höst den 26 & 27 september publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Reservera höstens utbildningsdagar redan nu! Riksförbundet Huntingtons sjukdom bjuder in till: Nationellt möte, torsdag den 26 september- Nationellt möte med inbjudna föreläsare och professioner från huntingtonteamen runt om i landet, vilka bland annat talar om; aktuell forskning, omvårdnad, utredningen om högspecialiserad vård, RHS arvsfondsprojekt, fysioterapi. Det kommer även att finnas utställare på plats. Utbildningsdag om…

Inlägget Utbildningsdagar i höst 26 och 27 september publicerades först på RHS Riksförbundet Huntingtons Sjukdom.